AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE

被引：61

作者：

REARDON, W

HOCKEY, A

SILBERSTEIN, P

KENDALL, B

FARAG, TI

SWASH, M

STEVENSON, R

BARAITSER, M

机构：

[1] HOSP SICK CHILDREN,DEPT NEURORADIOL,LONDON WC1N 3JH,ENGLAND

[2] PRINCESS MARGARET HOSP CHILDREN,PERTH,WA,AUSTRALIA

[3] GREENWOOD GENET CTR,GREENWOOD,SC 29646

[4] KUWAIT MED GENET CTR,SULIBIKHAT,KUWAIT

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 01期

关键词：

TORCH; INTRACRANIAL CALCIFICATION; MICROCEPHALY; AUTOSOMAL RECESSIVE;

D O I：

10.1002/ajmg.1320520112

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1994 Wiley-Liss, Inc.

引用

页码：58 / 65

页数：8