Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations - another case of Meacham syndrome

被引：22

作者：

Killeen, OG

Kelehan, P

Reardon, W ^{[1
]}

机构：

[1] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Ireland

[2] Natl Matern Hosp, Dept Pathol & Lab Med, Dublin 12, Ireland

来源：

CLINICAL DYSMORPHOLOGY | 2002年 / 11卷 / 01期

关键词：

double vagina; diaphragmatic hernia; hypoplastic left heart; sex reversal;

D O I：

10.1097/00019605-200201000-00005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal male karyotype. The aetiology and inheritance are unknown. We believe this to be the fifth reported case of a recognizable syndrome first reported by Meacham [(1991). Am J Med Genet 41:478-481].

引用

页码：25 / 28

页数：4

共 9 条

[1] Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation [J].