Ohdo S, Madokoro H, Sonoda T, Hayakawa K
J Med Genet. 1986 Jun;23(3):242-4. doi: 10.1136/jmg.23.3.242.
We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without congenital heart disease. The chromosomes of these patients are normal and the parents are non-consanguineous.
我们报告了两名患有智力障碍、先天性心脏病、睑裂狭小、上睑下垂和牙齿发育不全的姐妹。她们的一位堂姐也有同样的异常,但没有先天性心脏病。这些患者的染色体正常,其父母非近亲结婚。