Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?

被引：7

作者：

Martland, T

Harding, BN

Morton, RE

Young, I

机构：

[1] Univ Nottingham Hosp, Dept Paediat Neurol, Nottingham NG7 2UH, England

[2] Great Ormond St Hosp Children, Dept Histopathol, London WC1N 3JH, England

[3] Derby Childrens Hosp, Dept Paediat, Derby, England

[4] City Hosp Nottingham, Dept Clin Genet, Nottingham, England

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 12期

关键词：

intractable epilepsy; severe developmental delay; cerebral malformation; dentato-olivary dysplasia;

D O I：

10.1136/jmg.34.12.1021

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The cases of a brother and sister with dentato-olivary dysplasia are described. Both had severe developmental delay, severe epilepsy of early onset, evolving hypertonic quadriplegia, and death in early childhood. Postmortem examination of the brain in one child showed a particular form of dentato-olivary dysplasia. These children show many features in common with previously described cases of this condition, but this is the first report of occurrence in sibs.

引用

页码：1021 / 1023

页数：3

共 12 条

[1]

Aicardi J, 1985, EPILEPTIC SYNDROMES, P12

[2] INHERITED SYNDROME OF MICROCEPHALY, DYSKINESIA AND PONTOCEREBELLAR HYPOPLASIA - A SYSTEMIC ATROPHY WITH EARLY ONSET [J].