Reardon W, Hockey A, Silberstein P, Kendall B, Farag T I, Swash M, Stevenson R, Baraitser M
Department of Pediatric Genetics, Hospital for Sick Children, London Hospital.
Am J Med Genet. 1994 Aug 1;52(1):58-65. doi: 10.1002/ajmg.1320520112.
We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered.
我们报告了来自5个家庭的10例患者的数据，这些患者患有小头畸形、颅内钙化，临床病程类似先天性TORCH感染。反复进行的TORCH检查结果为阴性是诊断该疾病的前提条件，同时强调肝功能异常和血小板减少在诊断中的辅助价值。文献中还发现了几个类似的家族，其同胞中存在疾病复发的情况，并对我们观察结果的遗传学意义进行了探讨。
