Aarskog syndrome: Report of a family with review and discussion of nosology
Identifieur interne : 00CF89 ( Main/Exploration ); précédent : 00CF88; suivant : 00CF90Aarskog syndrome: Report of a family with review and discussion of nosology
Auteurs : Lutz L. Teebi [États-Unis] ; J. K. Rucquoi [États-Unis] ; M. S. Meyn [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1993-06-15.
Abstract
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed. © 1993 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320460508
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 005148
- to stream Istex, to step Curation: 005148
- to stream Istex, to step Checkpoint: 004F24
- to stream Main, to step Merge: 00DA28
- to stream Main, to step Curation: 00CF89
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Aarskog syndrome: Report of a family with review and discussion of nosology</title><author><name sortKey="Teebi, Lutz L" sort="Teebi, Lutz L" uniqKey="Teebi L" first="Lutz L" last="Teebi">Lutz L. Teebi</name></author><author><name sortKey="Rucquoi, J K" sort="Rucquoi, J K" uniqKey="Rucquoi J" first="J. K." last="Rucquoi">J. K. Rucquoi</name></author><author><name sortKey="Meyn, M S" sort="Meyn, M S" uniqKey="Meyn M" first="M. S." last="Meyn">M. S. Meyn</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AD308633809D6210F11645CD9140B3711D9639A2</idno><date when="1993" year="1993">1993</date><idno type="doi">10.1002/ajmg.1320460508</idno><idno type="url">https://api.istex.fr/document/AD308633809D6210F11645CD9140B3711D9639A2/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005148</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005148</idno><idno type="wicri:Area/Istex/Curation">005148</idno><idno type="wicri:Area/Istex/Checkpoint">004F24</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">004F24</idno><idno type="wicri:doubleKey">0148-7299:1993:Teebi L:aarskog:syndrome:report</idno><idno type="wicri:Area/Main/Merge">00DA28</idno><idno type="wicri:Area/Main/Curation">00CF89</idno><idno type="wicri:Area/Main/Exploration">00CF89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Aarskog syndrome: Report of a family with review and discussion of nosology</title><author><name sortKey="Teebi, Lutz L" sort="Teebi, Lutz L" uniqKey="Teebi L" first="Lutz L" last="Teebi">Lutz L. Teebi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Genetics, Yale University School of Medicine, New Haven</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Rucquoi, J K" sort="Rucquoi, J K" uniqKey="Rucquoi J" first="J. K." last="Rucquoi">J. K. Rucquoi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Genetics, Yale University School of Medicine, New Haven</wicri:cityArea></affiliation></author><author><name sortKey="Meyn, M S" sort="Meyn, M S" uniqKey="Meyn M" first="M. S." last="Meyn">M. S. Meyn</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Genetics, Yale University School of Medicine, New Haven</wicri:cityArea></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">46</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="501">501</biblScope><biblScope unit="page" to="509">509</biblScope><biblScope unit="page-count">9</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1993-06-15">1993-06-15</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">Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed. © 1993 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Connecticut</li></region></list><tree><country name="États-Unis"><region name="Connecticut"><name sortKey="Teebi, Lutz L" sort="Teebi, Lutz L" uniqKey="Teebi L" first="Lutz L" last="Teebi">Lutz L. Teebi</name></region><name sortKey="Meyn, M S" sort="Meyn, M S" uniqKey="Meyn M" first="M. S." last="Meyn">M. S. Meyn</name><name sortKey="Rucquoi, J K" sort="Rucquoi, J K" uniqKey="Rucquoi J" first="J. K." last="Rucquoi">J. K. Rucquoi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00CF89 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00CF89 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:AD308633809D6210F11645CD9140B3711D9639A2
|texte= Aarskog syndrome: Report of a family with review and discussion of nosology
}}
| This area was generated with Dilib version V0.6.31. |  |