Carmi R, Barbash A, Mares A J
Clinical Genetic Unit, Soroka University Hospital, Beer-Sheva, Israel.
Am J Med Genet. 1990 May;36(1):109-14. doi: 10.1002/ajmg.1320360122.
We report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X-linked dominant inheritance.
我们报告了一个患有此前未描述过的畸形综合征的家族。该综合征由膈疝和腹疝、肺发育不全以及相关心脏异常组成。受累男性和女性的相对数量以及男性明显更严重的表现提示为X连锁显性遗传。