Giacheti Célia M, Zanchetta Sthella, Maranhe Elizandra, Cassab Tatiana V, Abramides Dagma V, Souza Deise H, De-Vitto Luciana P M, Richieri-Costa Antonio
Departamento de Fonoaudiologia, UNESP, Marília, SP, Brazil.
Am J Med Genet A. 2007 Dec 15;143A(24):3137-9. doi: 10.1002/ajmg.a.32024.
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.
在此，我们报告一个巴西家庭中一种新确认的综合征，该家庭中有三名患病女性，她们具有类马凡氏体型；长脸；眼距过窄；鼻子又长又细；手脚又长又细；并且存在语言和学习障碍。该病症符合常染色体显性遗传。
