来自近亲父母的两名兄弟姐妹患鲁宾诺综合征。

Robinow syndrome in two siblings from consanguineous parents.

作者信息

Schorderet D F, Dahoun S, Defrance I, Nusslé D, Morris M A

机构信息

Department of Microbiology and Genetics, University of Geneva, Switzerland.

出版信息

Eur J Pediatr. 1992 Aug;151(8):586-9. doi: 10.1007/BF01957728.

DOI:10.1007/BF01957728

PMID:1505578

Abstract

A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).

摘要

一个库尔德家庭有两个孩子患有一种侏儒症。女儿身材矮小、巨头畸形、眼距过宽、肝脾肿大、前臂短小且有明显的脊柱异常。她的哥哥眼距过宽、牙槽嵴肥大、肝脾肿大、前臂短小、肋骨异常以及生殖器模糊。患病男性同胞的核型显示为45,X、46,X,dicY(q11.22)、47,X,dicY(q11.22),dicY(q11.22)的嵌合体。