New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies
Identifieur interne : 00D330 ( Main/Exploration ); précédent : 00D329; suivant : 00D331New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies
Auteurs : Brenda Finucane [États-Unis] ; Michael B. Kurtz [États-Unis] ; Charles I. Scott Jr. [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1992-07-15.
Abstract
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320430518
Affiliations:
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Kurtz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Medical Department of Elwyn, Inc., Elwyn</wicri:cityArea></affiliation></author><author><name sortKey="Scott Jr, Charles I" sort="Scott Jr, Charles I" uniqKey="Scott Jr C" first="Charles I." last="Scott Jr.">Charles I. Scott Jr.</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Delaware</region></placeName><wicri:cityArea>Alfred I. duPont Institute, Wilmington</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">43</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="844">844</biblScope><biblScope unit="page" to="847">847</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1992-07-15">1992-07-15</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">We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Delaware</li><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Finucane, Brenda" sort="Finucane, Brenda" uniqKey="Finucane B" first="Brenda" last="Finucane">Brenda Finucane</name></region><name sortKey="Kurtz, Michael B" sort="Kurtz, Michael B" uniqKey="Kurtz M" first="Michael B." last="Kurtz">Michael B. Kurtz</name><name sortKey="Scott Jr, Charles I" sort="Scott Jr, Charles I" uniqKey="Scott Jr C" first="Charles I." last="Scott Jr.">Charles I. 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