Alzial C, Dufier J L, Aicardi J, de Grouchy J, Saraux H
Ophthalmologica. 1980;180(6):333-9. doi: 10.1159/000308996.
'True' microcephaly is associated with extremely varied ocular abnormalities, the most frequent being squint and optic atrophy. Within the heterogeneous group of the microcephalies it seems we can isolate a syndrome consisting of microcephaly, mental retardation, chorioretinal dysplasia and sometimes microphthalmia and embryological remnants such as persistence of the primary vitreous or persistence of its minor forms. Genetic transmission of such anomalies is generally considered to be autosomal recessive. The cases we are reporting on suggest that in some cases dominant transmission can be incriminated.
“真性”小头畸形与极为多样的眼部异常相关,最常见的是斜视和视神经萎缩。在小头畸形这一异质性群体中,似乎我们可以分离出一种综合征,其包括小头畸形、智力迟钝、脉络膜视网膜发育异常,有时还伴有小眼畸形以及胚胎学残留物,如原始玻璃体持续存在或其微小形式的持续存在。此类异常的遗传传递一般被认为是常染色体隐性遗传。我们所报告的病例表明,在某些情况下,显性遗传也可能是病因。