Rasmussen M, Strømme P
Section for Child Neurology Department of Pediatrics, Rikshospitalet, Oslo, Norway.
Clin Dysmorphol. 1998 Jan;7(1):61-3.
A mentally retarded girl with congenital blepharophimosis, ptosis, hypoplastic teeth and other traits consistent with Ohdo syndrome is reported. Her mother had had surgery for blepharophimosis as a small child, but did not fulfil the other criteria for Ohdo syndrome. The mother had also been abusing alcohol prior to the pregnancy. Differential diagnoses and possible modes of inheritance are discussed.
报告了一名患有先天性睑裂狭小、上睑下垂、牙齿发育不全及其他与大藤综合征相符特征的智力发育迟缓女孩。她的母亲在小时候曾接受过睑裂狭小手术,但不符合大藤综合征的其他标准。这位母亲在怀孕前还酗酒。文中讨论了鉴别诊断及可能的遗传方式。