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
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Data
2007-12-15
Autores
Giacheti, Célia Maria [UNESP]
Zanchetta, Sthella
Maranhe, Elizandra
Cassab, Tatiana V.
Abran-Tides, Dagma V.
Souza, Deise H.
DeVitto, Luciana P. M.
Richieri-Costa, Antonio
Título da Revista
ISSN da Revista
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Editor
Wiley-Blackwell
Resumo
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. (C) 2007 Wiley-Liss, Inc.
Descrição
Palavras-chave
tall stature, minor facial anomalies, specific language and learning problems, autosomal dominant inheritance, new syndrome, 22q21 region
Como citar
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007.