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


Autoria(s): Giacheti, Célia Maria; Zanchetta, Sthella; Maranhe, Elizandra; Cassab, Tatiana V.; Abran-Tides, Dagma V.; Souza, Deise H.; DeVitto, Luciana P. M.; Richieri-Costa, Antonio
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

20/05/2014

20/05/2014

15/12/2007

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.

Formato

3137-3139

Identificador

http://dx.doi.org/10.1002/ajmg.a.32024

American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007.

1552-4825

http://hdl.handle.net/11449/10696

10.1002/ajmg.a.32024

WOS:000251405100034

Idioma(s)

eng

Publicador

Wiley-Blackwell

Relação

American Journal of Medical Genetics Part A

Direitos

closedAccess

Palavras-Chave #tall stature #minor facial anomalies #specific language and learning problems #autosomal dominant inheritance #new syndrome #22q21 region
Tipo

info:eu-repo/semantics/article