Feiler-Ofry V, Godel V, Nemet P, Lazar M
Br J Ophthalmol. 1980 Feb;64(2):121-3. doi: 10.1136/bjo.64.2.121.
A 7-year-old boy had an unusual association of median cleft-face syndrome, a characteristic physiognomy, unilateral retinal dysplasia, and bilateral retinal detachment. Despite surgical treatment to both eyes he became blind. The hereditary pattern operating in this complex disorder was found to be consistent with an autosomal dominant trait.
一名7岁男孩患有一种罕见的综合征,其特征为正中面裂综合征、独特的面部特征、单侧视网膜发育异常和双侧视网膜脱离。尽管对双眼进行了手术治疗,但他仍失明。研究发现,这种复杂疾病的遗传模式符合常染色体显性特征。