Schinzel A
Helv Paediatr Acta. 1979 May;34(2):141-6.
A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.
一名男性患者出现一系列先天性畸形,包括巨头畸形、胼胝体缺失、眼距过宽、小鼻子、双侧腹股沟疝、四肢轴后多指畸形以及拇趾重复并指畸形。他的发育特点为生长迟缓、反复感染、发绀发作、癫痫发作以及严重的运动和智力发育迟缓。该病例可能代表一种病因迄今不明的新发现的畸形综合征。