North K N, Fulton A B, Whiteman D A
Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
Am J Med Genet. 1995 Jul 31;58(1):54-8. doi: 10.1002/ajmg.1320580112.
We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities.
我们报告了首例符合拟议的科恩综合征诊断标准的同卵双胞胎女性病例。这对姐妹表现出视网膜变性、肥胖和智力迟钝，并具有典型的面部外观。本文回顾了先前报道的科恩综合征病例的表现。我们患者的异常变化包括身材高大、巨头畸形以及出生后第一年出现的短暂性心肌病。这些异常先前在其他科恩综合征患者中也有报道，提示该疾病在表型上具有异质性。两名女孩均出现性早熟；后一发现此前在科恩综合征中尚未有报道。详细的代谢和细胞遗传学分析未显示异常。
