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- 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
- Universidade de São Paulo (USP)
- Universidade Estadual Paulista (UNESP)
- 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.
- American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007.
- tall stature
- minor facial anomalies
- specific language and learning problems
- autosomal dominant inheritance
- new syndrome
- 22q21 region
- Acesso restrito
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