Premium
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
Author(s) -
Giacheti Célia M.,
Zanchetta Sthella,
Maranhe Elizandra,
Cassab Tatiana V.,
Abramides Dagma V.,
Souza Deise H.,
DeVitto Luciana P.M.,
RichieriCosta Antonio
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32024
Subject(s) - face (sociological concept) , habitus , anatomy , nose , medicine , linguistics , geography , philosophy , archaeology , ethnography
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.