Amniotic band sequence and its neurocutaneous manifestations
Identifieur interne : 00E854 ( Main/Exploration ); précédent : 00E853; suivant : 00E855Amniotic band sequence and its neurocutaneous manifestations
Auteurs : P. Chen [États-Unis] ; Enrique Gonzalez [États-Unis] ; John M. Opitz ; James F. ReynoldsSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1987-11.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Anomalies morphologiques congénitales des membres, Crâne (malformations), Diagnostic prénatal, Femelle, Grossesse, Humains, Maladie des brides amniotiques (), Maladie des brides amniotiques (anatomopathologie), Maladies de la peau (anatomopathologie), Maladies foetales (diagnostic), Malformations multiples (anatomopathologie), Mâle, Nouveau-né, Os de la face (malformations).
- MESH :
- anatomopathologie : Maladie des brides amniotiques, Maladies de la peau, Malformations multiples.
- diagnostic : Maladies foetales.
- malformations : Crâne, Os de la face.
- Adolescent, Adulte, Anomalies morphologiques congénitales des membres, Diagnostic prénatal, Femelle, Grossesse, Humains, Maladie des brides amniotiques, Mâle, Nouveau-né.
English descriptors
- KwdEn :
- Abnormalities, Multiple (pathology), Adolescent, Adult, Amniotic Band Syndrome (complications), Amniotic Band Syndrome (pathology), Facial Bones (abnormalities), Female, Fetal Diseases (diagnosis), Humans, Infant, Newborn, Limb Deformities, Congenital, Male, Pregnancy, Prenatal Diagnosis, Skin Diseases (pathology), Skull (abnormalities).
- MESH :
- abnormalities : Facial Bones, Skull.
- complications : Amniotic Band Syndrome.
- diagnosis : Fetal Diseases.
- pathology : Abnormalities, Multiple, Amniotic Band Syndrome, Skin Diseases.
- Adolescent, Adult, Female, Humans, Infant, Newborn, Limb Deformities, Congenital, Male, Pregnancy, Prenatal Diagnosis.
Abstract
Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 arid 6 had only limb defects. Craniofacial and neurologic manifestations of our longer‐survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro‐ or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema, pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.
Url:
DOI: 10.1002/ajmg.1320280314
Affiliations:
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Le document en format XML
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Chen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Medical Genetics, Children's Medical Center, and Departments of Pediatrics and Obstetrics/Gynecology, Wright State University School of Medicine, Dayton</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Gonzalez, Enrique" sort="Gonzalez, Enrique" uniqKey="Gonzalez E" first="Enrique" last="Gonzalez">Enrique Gonzalez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Department of Pathology, Louisiana State University Medical Center, Shreveport</wicri:cityArea></affiliation></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></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">28</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="661">661</biblScope><biblScope unit="page" to="673">673</biblScope><biblScope unit="page-count">13</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1987-11">1987-11</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (pathology)</term><term>Adolescent</term><term>Adult</term><term>Amniotic Band Syndrome (complications)</term><term>Amniotic Band Syndrome (pathology)</term><term>Facial Bones (abnormalities)</term><term>Female</term><term>Fetal Diseases (diagnosis)</term><term>Humans</term><term>Infant, Newborn</term><term>Limb Deformities, Congenital</term><term>Male</term><term>Pregnancy</term><term>Prenatal Diagnosis</term><term>Skin Diseases (pathology)</term><term>Skull (abnormalities)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Anomalies morphologiques congénitales des membres</term><term>Crâne (malformations)</term><term>Diagnostic prénatal</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Maladie des brides amniotiques ()</term><term>Maladie des brides amniotiques (anatomopathologie)</term><term>Maladies de la peau (anatomopathologie)</term><term>Maladies foetales (diagnostic)</term><term>Malformations multiples (anatomopathologie)</term><term>Mâle</term><term>Nouveau-né</term><term>Os de la face (malformations)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Facial Bones</term><term>Skull</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Maladie des brides amniotiques</term><term>Maladies de la peau</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Amniotic Band Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Fetal Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladies foetales</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Crâne</term><term>Os de la face</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Amniotic Band Syndrome</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Female</term><term>Humans</term><term>Infant, Newborn</term><term>Limb Deformities, Congenital</term><term>Male</term><term>Pregnancy</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Anomalies morphologiques congénitales des membres</term><term>Diagnostic prénatal</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Maladie des brides amniotiques</term><term>Mâle</term><term>Nouveau-né</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 arid 6 had only limb defects. Craniofacial and neurologic manifestations of our longer‐survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro‐ or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema, pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Louisiane</li><li>Ohio</li></region></list><tree><noCountry><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></noCountry><country name="États-Unis"><region name="Ohio"><name sortKey="Chen, P" sort="Chen, P" uniqKey="Chen P" first="P" last="Chen">P. Chen</name></region><name sortKey="Gonzalez, Enrique" sort="Gonzalez, Enrique" uniqKey="Gonzalez E" first="Enrique" last="Gonzalez">Enrique Gonzalez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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