Mendoza H R
Bol Med Hosp Infant Mex. 1978 Nov-Dec;35(6):1053-59.
Two cases of mental retardation distichia, blepharophimosis, blepharoptosis, synophrys, prominent and long phyllum, auricular defects, palmar simial crease, clinodactyly and lymphedema, in a child and his mother, is represented, suggesting a specific syndrome due to a genetic defect inherited in an autosomal dominant fashion. Two other cases with blepharophimosis, blepharoptosis, prominent and long phyllum and mental retardation are commented, suggesting a different expression of the same genetic defect.
报告了一名儿童及其母亲患有智力发育迟缓、双行睫、睑裂狭小、上睑下垂、眉连、睑裂斑突出且长、耳部缺损、手掌猿线、小指内弯和淋巴水肿的两例病例，提示这是一种由常染色体显性遗传的基因缺陷导致的特定综合征。另外还对两例患有睑裂狭小、上睑下垂、睑裂斑突出且长以及智力发育迟缓的病例进行了评论，提示同一基因缺陷的不同表现形式。
