Frydman M, Cohen H A, Karmon G, Savir H
Department of Pediatrics, Hasharon Hospital, Petah Tiqwa, Israel.
Clin Genet. 1992 Feb;41(2):57-61. doi: 10.1111/j.1399-0004.1992.tb03632.x.
A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline head circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
在三个相关家族的六名成员中报告了一种隐性遗传的睑裂狭小和上睑下垂综合征，伴有眼外肌和额肌无力。下颌前突、连眉和浓眉增加了典型的面部外观。其他发现包括身材矮小、头围临界值和脚趾并指。一名患者存在临界智力迟钝和嗅觉缺失。该综合征的临床特征和遗传方式使其有别于其他睑裂狭小和上睑下垂综合征。
