Cantú J M, Rojas J A, García-Cruz D, Hernández A, Pagán P, Fragoso R, Manzano C
Hum Genet. 1977 Apr 15;36(2):243-7. doi: 10.1007/BF00273265.
Two sisters and their brother affected with microcephaly, microphthalmia, chorioretinal degeneration, and optic atrophy were studied. Besides the clinical features derived from the main abnormalities, nanosomy and cutis marmorata were found in the three patients. Both parents and three other sibs were normal. Possible intrauterine non-genetic etiologic factors (X-rays, toxoplasmosis, cytomegalovirus) which can lead to phenocopies were investigated with negative results. Based on these and previous observations, it seems clear that a distinct form of autosomal recessive microcephaly associated with chorioretinal degeneration can be separated from the heterogenous group of entities which presents microcephaly.
对两名患有小头畸形、小眼症、脉络膜视网膜变性和视神经萎缩的姐妹及其兄弟进行了研究。除了主要异常所导致的临床特征外，这三名患者还存在染色体单体性和大理石样皮肤。父母双方以及另外三名同胞均正常。对可能导致拟表型的宫内非遗传病因（X射线、弓形虫病、巨细胞病毒）进行了调查，结果为阴性。基于这些以及之前的观察结果，似乎很明显，一种与脉络膜视网膜变性相关的独特常染色体隐性小头畸形可以从小头畸形的异质性疾病组中区分出来。
