A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. ©...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-12, Vol.143A (24), p.3137-3139
Hauptverfasser:	Giacheti, Célia M., Zanchetta, Sthella, Maranhe, Elizandra, Cassab, Tatiana V., Abramides, Dagma V., Souza, Deise H., De-Vitto, Luciana P.M., Richieri-Costa, Antonio
Format:	Artikel
Sprache:	eng
Schlagworte:	22q21 region Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Adult autosomal dominant inheritance Biological and medical sciences Craniofacial Abnormalities - genetics Facies Family Health Female Foot - pathology Genes, Dominant Hand - pathology Humans Intellectual Disability - genetics Language Learning Disorders - genetics Marfan Syndrome - genetics Medical genetics Medical sciences minor facial anomalies new syndrome Nose - pathology specific language and learning problems Syndrome tall stature
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Zusammenfassung:	Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. © 2007 Wiley‐Liss, Inc.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.32024