Maat-Kievit A, Brunner H G, Maaswinkel-Mooij P
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618.
Two additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.
本文描述了另外两例大户睑裂狭小综合征病例，并与之前报道的5例患者进行了比较。睑裂狭小、上睑下垂、牙齿发育不全、智力迟钝和耳聋可被视为该综合征的常见表现。男性患者表现为隐睾症和阴囊发育不全。
