Saal H M, Greenstein R M, Weinbaum P J, Poole A E
Department of Pediatrics, University of Connecticut School of Medicine, Farmington 06032.
Am J Med Genet. 1988 Jul;30(3):709-18. doi: 10.1002/ajmg.1320300303.
We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.
我们描述了两名患有身材矮小、中肢短小、巨头畸形、生殖器发育不全和前房劈裂异常的姐妹。她们的许多表现已在患有罗宾诺综合征的个体中有所描述；然而，这两名女孩均出现的前房劈裂异常、妹妹出现的脑积水以及明显的常染色体隐性遗传并不属于罗宾诺综合征的特征。这对姐妹所患的综合征很可能代表一种此前未被描述过的常染色体隐性综合征。
