Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
Identifieur interne : 004593 ( Istex/Corpus ); précédent : 004592; suivant : 004594Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
Auteurs : K. O. Chen ; L. Immken ; R. Lachman ; S. Yang ; D. L. Rimoin ; D. Rightmire ; D. Eteson ; F. Stewart ; F. A. Beemer ; J. M. Opitz ; E. F. Gilbert ; L. O. Langer ; L. R. Shapiro ; P. A. DuncanSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1984-04.
Abstract
Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.
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DOI: 10.1002/ajmg.1320170411
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title><author><name sortKey="Chen, K O" sort="Chen, K O" uniqKey="Chen K" first="K. O." last="Chen">K. O. Chen</name><affiliation><mods:affiliation>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation><affiliation><mods:affiliation>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</mods:affiliation></affiliation></author><author><name sortKey="Immken, L" sort="Immken, L" uniqKey="Immken L" first="L." last="Immken">L. Immken</name><affiliation><mods:affiliation>Department of Pediatrics, University of Texas Medical School at Houston, Houston</mods:affiliation></affiliation></author><author><name sortKey="Lachman, R" sort="Lachman, R" uniqKey="Lachman R" first="R." last="Lachman">R. Lachman</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Yang, S" sort="Yang, S" uniqKey="Yang S" first="S." last="Yang">S. Yang</name><affiliation><mods:affiliation>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan</mods:affiliation></affiliation></author><author><name sortKey="Rimoin, D L" sort="Rimoin, D L" uniqKey="Rimoin D" first="D. L." last="Rimoin">D. L. Rimoin</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Rightmire, D" sort="Rightmire, D" uniqKey="Rightmire D" first="D." last="Rightmire">D. Rightmire</name><affiliation><mods:affiliation>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation></author><author><name sortKey="Eteson, D" sort="Eteson, D" uniqKey="Eteson D" first="D." last="Eteson">D. Eteson</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Stewart, F" sort="Stewart, F" uniqKey="Stewart F" first="F." last="Stewart">F. Stewart</name><affiliation><mods:affiliation>Department of Pathology, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation></author><author><name sortKey="Beemer, F A" sort="Beemer, F A" uniqKey="Beemer F" first="F. A." last="Beemer">F. A. Beemer</name><affiliation><mods:affiliation>Stichting Clinical Genetics Center, Utrecht, Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J. M." last="Opitz">J. M. Opitz</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena, Montana</mods:affiliation></affiliation></author><author><name sortKey="Gilbert, E F" sort="Gilbert, E F" uniqKey="Gilbert E" first="E. F." last="Gilbert">E. F. Gilbert</name><affiliation><mods:affiliation>Departments of Pathology and Pediatrics, University of Wisconsin, Madison</mods:affiliation></affiliation></author><author><name sortKey="Langer, L O" sort="Langer, L O" uniqKey="Langer L" first="L. O." last="Langer">L. O. Langer</name><affiliation><mods:affiliation>Department of Radiology, University of Wisconsin, Madison</mods:affiliation></affiliation></author><author><name sortKey="Shapiro, L R" sort="Shapiro, L R" uniqKey="Shapiro L" first="L. R." last="Shapiro">L. R. Shapiro</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</mods:affiliation></affiliation></author><author><name sortKey="Duncan, P A" sort="Duncan, P A" uniqKey="Duncan P" first="P. A." last="Duncan">P. A. Duncan</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:94360344AF77F84A837F537777F412DCD2885D37</idno><date when="1984" year="1984">1984</date><idno type="doi">10.1002/ajmg.1320170411</idno><idno type="url">https://api.istex.fr/document/94360344AF77F84A837F537777F412DCD2885D37/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">004593</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004593</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title><author><name sortKey="Chen, K O" sort="Chen, K O" uniqKey="Chen K" first="K. O." last="Chen">K. O. Chen</name><affiliation><mods:affiliation>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation><affiliation><mods:affiliation>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</mods:affiliation></affiliation></author><author><name sortKey="Immken, L" sort="Immken, L" uniqKey="Immken L" first="L." last="Immken">L. Immken</name><affiliation><mods:affiliation>Department of Pediatrics, University of Texas Medical School at Houston, Houston</mods:affiliation></affiliation></author><author><name sortKey="Lachman, R" sort="Lachman, R" uniqKey="Lachman R" first="R." last="Lachman">R. Lachman</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Yang, S" sort="Yang, S" uniqKey="Yang S" first="S." last="Yang">S. Yang</name><affiliation><mods:affiliation>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan</mods:affiliation></affiliation></author><author><name sortKey="Rimoin, D L" sort="Rimoin, D L" uniqKey="Rimoin D" first="D. L." last="Rimoin">D. L. Rimoin</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Rightmire, D" sort="Rightmire, D" uniqKey="Rightmire D" first="D." last="Rightmire">D. Rightmire</name><affiliation><mods:affiliation>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation></author><author><name sortKey="Eteson, D" sort="Eteson, D" uniqKey="Eteson D" first="D." last="Eteson">D. Eteson</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</mods:affiliation></affiliation></author><author><name sortKey="Stewart, F" sort="Stewart, F" uniqKey="Stewart F" first="F." last="Stewart">F. Stewart</name><affiliation><mods:affiliation>Department of Pathology, LSU Medical Center, Shreveport, Louisiana</mods:affiliation></affiliation></author><author><name sortKey="Beemer, F A" sort="Beemer, F A" uniqKey="Beemer F" first="F. A." last="Beemer">F. A. Beemer</name><affiliation><mods:affiliation>Stichting Clinical Genetics Center, Utrecht, Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J. M." last="Opitz">J. M. Opitz</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena, Montana</mods:affiliation></affiliation></author><author><name sortKey="Gilbert, E F" sort="Gilbert, E F" uniqKey="Gilbert E" first="E. F." last="Gilbert">E. F. Gilbert</name><affiliation><mods:affiliation>Departments of Pathology and Pediatrics, University of Wisconsin, Madison</mods:affiliation></affiliation></author><author><name sortKey="Langer, L O" sort="Langer, L O" uniqKey="Langer L" first="L. O." last="Langer">L. O. Langer</name><affiliation><mods:affiliation>Department of Radiology, University of Wisconsin, Madison</mods:affiliation></affiliation></author><author><name sortKey="Shapiro, L R" sort="Shapiro, L R" uniqKey="Shapiro L" first="L. R." last="Shapiro">L. R. Shapiro</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</mods:affiliation></affiliation></author><author><name sortKey="Duncan, P A" sort="Duncan, P A" uniqKey="Duncan P" first="P. A." last="Duncan">P. A. Duncan</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">17</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="809">809</biblScope><biblScope unit="page" to="826">826</biblScope><biblScope unit="page-count">18</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1984-04">1984-04</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>hypoplastic</json:string><json:string>pterygium</json:string><json:string>fetus</json:string><json:string>cystic</json:string><json:string>hygroma</json:string><json:string>syndrome</json:string><json:string>genet</json:string><json:string>cystic 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zone</json:string><json:string>cartilage</json:string><json:string>physeal growth plate</json:string><json:string>histologic studies</json:string><json:string>bony fusion</json:string><json:string>radiographic findings</json:string><json:string>proliferative zone</json:string><json:string>pterygium syndrome</json:string><json:string>hypoplastic lungs</json:string><json:string>multiple pterygium syndrome</json:string><json:string>distal humerus</json:string><json:string>pulmonary hypoplasia</json:string><json:string>proximal ulna</json:string><json:string>spinous processes</json:string><json:string>prenatal diagnosis</json:string><json:string>pubic bones</json:string><json:string>lateral</json:string><json:string>rib</json:string><json:string>dysplasia</json:string><json:string>sacral</json:string><json:string>soft tissue webs</json:string><json:string>incipient fusion</json:string><json:string>lower limbs</json:string><json:string>palpebral fissures</json:string><json:string>ulnar deviation</json:string><json:string>ultrasound examination</json:string><json:string>vertebral bodies</json:string><json:string>masson trichome</json:string><json:string>cervicothoracic junction</json:string><json:string>nonconsanguineous husband</json:string><json:string>malformed ears</json:string><json:string>mandibular angle</json:string><json:string>upper limbs</json:string><json:string>proximal radius</json:string><json:string>nasal bridge</json:string><json:string>proximal</json:string><json:string>identical twins</json:string><json:string>ulnar overgrowth</json:string><json:string>soft tissue density</json:string><json:string>older fetuses</json:string><json:string>postmortem findings</json:string><json:string>epiphyseal cartilage</json:string><json:string>iliac wings</json:string><json:string>round chondrocytes</json:string><json:string>cleft palate</json:string><json:string>antimongoloid slant</json:string><json:string>small chest</json:string><json:string>epiphyseal cartilages</json:string><json:string>lateral views</json:string><json:string>sagittal section</json:string><json:string>similar pattern</json:string><json:string>indistinct zone</json:string><json:string>flexion contractures</json:string><json:string>multiple anomalies</json:string><json:string>fetal heart tones</json:string><json:string>epicanthal folds</json:string><json:string>anatomical pathology</json:string><json:string>birth defects conference</json:string><json:string>soft tissues</json:string><json:string>sacral spine</json:string><json:string>ulna bilaterally</json:string><json:string>normal length</json:string><json:string>sciatic nerve</json:string><json:string>skeletal anomalies</json:string><json:string>biparietal diameter</json:string><json:string>amniotic fluid</json:string><json:string>additional cases</json:string><json:string>family history</json:string><json:string>popliteal webs</json:string><json:string>normal modeling</json:string><json:string>distal femur</json:string><json:string>proximal tibia</json:string><json:string>chorionic villi</json:string><json:string>postmortem examination</json:string><json:string>present bilaterally</json:string><json:string>fetal activity</json:string><json:string>lethal form</json:string><json:string>sacral agenesis</json:string><json:string>vertebral fusion</json:string><json:string>costovertebral dysplasia</json:string><json:string>differential diagnosis</json:string><json:string>younger fetuses</json:string><json:string>dimes birth defects foundation</json:string><json:string>medical genetics</json:string><json:string>chen</json:string></teeft></keywords><author><json:item><name>Dr. Chen</name><affiliations><json:string>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana</json:string><json:string>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</json:string></affiliations></json:item><json:item><name>L. Immken</name><affiliations><json:string>Department of Pediatrics, University of Texas Medical School at Houston, Houston</json:string></affiliations></json:item><json:item><name>R. Lachman</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</json:string><json:string>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California</json:string></affiliations></json:item><json:item><name>S. Yang</name><affiliations><json:string>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan</json:string></affiliations></json:item><json:item><name>D. L. Rimoin</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</json:string></affiliations></json:item><json:item><name>D. Rightmire</name><affiliations><json:string>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana</json:string></affiliations></json:item><json:item><name>D. Eteson</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</json:string></affiliations></json:item><json:item><name>F. Stewart</name><affiliations><json:string>Department of Pathology, LSU Medical Center, Shreveport, Louisiana</json:string></affiliations></json:item><json:item><name>F. A. Beemer</name><affiliations><json:string>Stichting Clinical Genetics Center, Utrecht, Netherlands</json:string></affiliations></json:item><json:item><name>J. M. Opitz</name><affiliations><json:string>Shodair Children's Hospital, Helena, Montana</json:string></affiliations></json:item><json:item><name>E. F. Gilbert</name><affiliations><json:string>Departments of Pathology and Pediatrics, University of Wisconsin, Madison</json:string></affiliations></json:item><json:item><name>L. O. Langer</name><affiliations><json:string>Department of Radiology, University of Wisconsin, Madison</json:string></affiliations></json:item><json:item><name>L. R. Shapiro</name><affiliations><json:string>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</json:string></affiliations></json:item><json:item><name>P. A. Duncan</name><affiliations><json:string>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>lethal mirltiple pterygium syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>multiple pterygia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>camptodactyly</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>arthrogryposis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cystic hygroma</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>nonimmune hydrops</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hypoplastic lungs</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hypoplastic heart</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>skeletal abnormalities</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>endochondral growth plate</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ultrasonography</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>prenatal diagnosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>true multiple congenital anomaly syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deformities</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dysplasias</value></json:item></subject><articleId><json:string>AJMG1320170411</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.</abstract><qualityIndicators><score>7.928</score><pdfVersion>1.3</pdfVersion><pdfPageSize>504 x 720 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1753</abstractCharCount><pdfWordCount>5496</pdfWordCount><pdfCharCount>34345</pdfCharCount><pdfPageCount>18</pdfPageCount><abstractWordCount>244</abstractWordCount></qualityIndicators><title>Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>17</volume><issue>4</issue><pages><first>809</first><last>826</last><total>18</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string><json:string>genetique medicale</json:string></inist></categories><publicationDate>1984</publicationDate><copyrightDate>1984</copyrightDate><doi><json:string>10.1002/ajmg.1320170411</json:string></doi><id>94360344AF77F84A837F537777F412DCD2885D37</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/94360344AF77F84A837F537777F412DCD2885D37/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/94360344AF77F84A837F537777F412DCD2885D37/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/94360344AF77F84A837F537777F412DCD2885D37/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1984-04"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title><title level="a" type="short" xml:lang="en">Lethal Multiple Pterygium Syndrome</title><author xml:id="author-0000" role="corresp"><persName><addName>Dr.</addName><forename type="first">H.</forename><surname>Chen</surname></persName><affiliation>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana<address><country key="US"></country></address></affiliation><affiliation>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</affiliation></author><author xml:id="author-0001"><persName><forename type="first">L.</forename><surname>Immken</surname></persName><affiliation>Department of Pediatrics, University of Texas Medical School at Houston, Houston<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">R.</forename><surname>Lachman</surname></persName><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California<address><country key="US"></country></address></affiliation><affiliation>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">S.</forename><surname>Yang</surname></persName><affiliation>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">D. L.</forename><surname>Rimoin</surname></persName><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">D.</forename><surname>Rightmire</surname></persName><affiliation>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana<address><country key="US"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">D.</forename><surname>Eteson</surname></persName><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California<address><country key="US"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">F.</forename><surname>Stewart</surname></persName><affiliation>Department of Pathology, LSU Medical Center, Shreveport, Louisiana<address><country key="US"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">F. A.</forename><surname>Beemer</surname></persName><affiliation>Stichting Clinical Genetics Center, Utrecht, Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">J. M.</forename><surname>Opitz</surname></persName><affiliation>Shodair Children's Hospital, Helena, Montana<address><country key="US"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">E. F.</forename><surname>Gilbert</surname></persName><affiliation>Departments of Pathology and Pediatrics, University of Wisconsin, Madison<address><country key="US"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">L. O.</forename><surname>Langer</surname></persName><affiliation>Department of Radiology, University of Wisconsin, Madison<address><country key="US"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">L. R.</forename><surname>Shapiro</surname></persName><affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York<address><country key="US"></country></address></affiliation></author><author xml:id="author-0013"><persName><forename type="first">P. A.</forename><surname>Duncan</surname></persName><affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York<address><country key="US"></country></address></affiliation></author><idno type="istex">94360344AF77F84A837F537777F412DCD2885D37</idno><idno type="DOI">10.1002/ajmg.1320170411</idno><idno type="unit">AJMG1320170411</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320170411.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v17:4</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">17</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="809">809</biblScope><biblScope unit="page" to="826">826</biblScope><biblScope unit="page-count">18</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1984-04"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia.</p><p>Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis.</p><p>Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2).</p><p>To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">lethal mirltiple pterygium syndrome</term><term xml:id="kwd2">multiple pterygia</term><term xml:id="kwd3">camptodactyly</term><term xml:id="kwd4">arthrogryposis</term><term xml:id="kwd5">cystic hygroma</term><term xml:id="kwd6">nonimmune hydrops</term><term xml:id="kwd7">hypoplastic lungs</term><term xml:id="kwd8">hypoplastic heart</term><term xml:id="kwd9">skeletal abnormalities</term><term xml:id="kwd10">endochondral growth plate</term><term xml:id="kwd11">ultrasonography</term><term xml:id="kwd12">prenatal diagnosis</term><term xml:id="kwd13">true multiple congenital anomaly syndrome</term><term xml:id="kwd14">deformities</term><term xml:id="kwd15">dysplasias</term></keywords><classCode scheme="articleCategory">Article</classCode><classCode scheme="tocHeading1">Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/94360344AF77F84A837F537777F412DCD2885D37/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/ajmg.v17:4</doi><numberingGroup><numbering type="journalVolume" number="17">17</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="1984-04">April 1984</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="11" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320170411</doi><idGroup><id type="unit" value="AJMG1320170411"></id></idGroup><countGroup><count type="pageTotal" number="18"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1983-01-27"></event><event type="manuscriptRevised" date="1983-07-20"></event><event type="firstOnline" date="2005-06-03"></event><event type="publishedOnlineFinalForm" date="2005-06-03"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.9 mode:FullText" date="2010-06-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">809</numbering><numbering type="pageLast">826</numbering></numberingGroup><correspondenceTo>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320170411.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="6"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="25"></count></countGroup><titleGroup><title type="main" xml:lang="en">Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title><title type="short" xml:lang="en">Lethal Multiple Pterygium Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><honorifics>Dr.</honorifics><givenNames>H.</givenNames><familyName>Chen</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af4"><personName><givenNames>L.</givenNames><familyName>Immken</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af5 #af6"><personName><givenNames>R.</givenNames><familyName>Lachman</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af7"><personName><givenNames>S.</givenNames><familyName>Yang</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>D. 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A.</givenNames><familyName>Duncan</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Pathology, LSU Medical Center, Shreveport, Louisiana</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, University of Texas Medical School at Houston, Houston</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="NL" type="organization"><unparsedAffiliation>Stichting Clinical Genetics Center, Utrecht, Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="US" type="organization"><unparsedAffiliation>Shodair Children's Hospital, Helena, Montana</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="US" type="organization"><unparsedAffiliation>Departments of Pathology and Pediatrics, University of Wisconsin, Madison</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="US" type="organization"><unparsedAffiliation>Department of Radiology, University of Wisconsin, Madison</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="US" type="organization"><unparsedAffiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">lethal mirltiple pterygium syndrome</keyword><keyword xml:id="kwd2">multiple pterygia</keyword><keyword xml:id="kwd3">camptodactyly</keyword><keyword xml:id="kwd4">arthrogryposis</keyword><keyword xml:id="kwd5">cystic hygroma</keyword><keyword xml:id="kwd6">nonimmune hydrops</keyword><keyword xml:id="kwd7">hypoplastic lungs</keyword><keyword xml:id="kwd8">hypoplastic heart</keyword><keyword xml:id="kwd9">skeletal abnormalities</keyword><keyword xml:id="kwd10">endochondral growth plate</keyword><keyword xml:id="kwd11">ultrasonography</keyword><keyword xml:id="kwd12">prenatal diagnosis</keyword><keyword xml:id="kwd13">true multiple congenital anomaly syndrome</keyword><keyword xml:id="kwd14">deformities</keyword><keyword xml:id="kwd15">dysplasias</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia.</p><p>Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis.</p><p>Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2).</p><p>To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Lethal Multiple Pterygium Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Chen</namePart><affiliation>Department of Pediatrics, LSU Medical Center, Shreveport, Louisiana</affiliation><affiliation>Birth Defects Center, Louisiana State University Medical Center, P.O. Box 33932, Shreveport, LA 71130</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Immken</namePart><affiliation>Department of Pediatrics, University of Texas Medical School at Houston, Houston</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Lachman</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</affiliation><affiliation>Department of Radiology, Harbor‐UCLA Medical Center, Torrance, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Yang</namePart><affiliation>Department of Anatomical Pathology, William Beaumont Hospital, Royal Oak, Michigan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D. L.</namePart><namePart type="family">Rimoin</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Rightmire</namePart><affiliation>Department of Obstetrics, LSU Medical Center, Shreveport, Louisiana</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Eteson</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, Harbor‐UCLA Medical Center, Torrance, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F.</namePart><namePart type="family">Stewart</namePart><affiliation>Department of Pathology, LSU Medical Center, Shreveport, Louisiana</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F. A.</namePart><namePart type="family">Beemer</namePart><affiliation>Stichting Clinical Genetics Center, Utrecht, Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. M.</namePart><namePart type="family">Opitz</namePart><affiliation>Shodair Children's Hospital, Helena, Montana</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E. F.</namePart><namePart type="family">Gilbert</namePart><affiliation>Departments of Pathology and Pediatrics, University of Wisconsin, Madison</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L. O.</namePart><namePart type="family">Langer</namePart><affiliation>Department of Radiology, University of Wisconsin, Madison</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L. R.</namePart><namePart type="family">Shapiro</namePart><affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P. A.</namePart><namePart type="family">Duncan</namePart><affiliation>Departments of Pediatrics and Pathology, New York Medical College and Westchester County Medical Center, Valhalla, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1984-04</dateIssued><dateCaptured encoding="w3cdtf">1983-01-27</dateCaptured><copyrightDate encoding="w3cdtf">1984</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">6</extent><extent unit="tables">2</extent><extent unit="references">25</extent></physicalDescription><abstract lang="en">Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.</abstract><subject lang="en"><genre>keywords</genre><topic>lethal mirltiple pterygium syndrome</topic><topic>multiple pterygia</topic><topic>camptodactyly</topic><topic>arthrogryposis</topic><topic>cystic hygroma</topic><topic>nonimmune hydrops</topic><topic>hypoplastic lungs</topic><topic>hypoplastic heart</topic><topic>skeletal abnormalities</topic><topic>endochondral growth plate</topic><topic>ultrasonography</topic><topic>prenatal diagnosis</topic><topic>true multiple congenital anomaly syndrome</topic><topic>deformities</topic><topic>dysplasias</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>1984</date><detail type="volume"><caption>vol.</caption><number>17</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>809</start><end>826</end><total>18</total></extent></part></relatedItem><identifier type="istex">94360344AF77F84A837F537777F412DCD2885D37</identifier><identifier type="DOI">10.1002/ajmg.1320170411</identifier><identifier type="ArticleID">AJMG1320170411</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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