两名患有马尔普克综合征的兄弟姐妹。

Two sibs with Malpuech syndrome.

作者信息

Crisponi G, Marras A R, Corrias A

机构信息

Centro per lo Studio delle Malformazioni Congenite and Servizio di Puericultura, Università di Cagliari, Cagliari, Italy. gczispon@.vazca1.unica.it

出版信息

Am J Med Genet. 1999 Sep 17;86(3):294-9. doi: 10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2.

DOI:10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2

PMID:10482884

Abstract

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.

摘要

我们报告了两名患有面部裂隙、眼距过宽、泌尿生殖系统异常（包括小阴茎、披肩状阴囊）、听力丧失、尾状附属物和脐疝的意大利兄弟。我们将这两例病例评估为马尔普克综合征。这是一种极其罕见的常染色体隐性综合征。