JOUBERT SYNDROME ASSOCIATED WITH LEBER AMAUROSIS AND MULTICYSTIC KIDNEYS

被引：36

作者：

IVARSSON, SA

BJERRE, I

BRUN, A

LJUNGBERG, O

MALY, E

TAYLOR, I

机构：

[1] UNIV LUND,MALMO GEN HOSP,DEPT PATHOL,S-21401 MALMO,SWEDEN

[2] UNIV LUND,MALMO GEN HOSP,DEPT OPHTHALMOL,S-21401 MALMO,SWEDEN

[3] UNIV LUND HOSP,DEPT PATHOL,DIV NEUROPATHOL,S-22185 LUND,SWEDEN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 05期

关键词：

CEREBELLAR VERMIS HYPOPLASIA; PRENATAL DIAGNOSIS; NEONATAL TACHYPNEA;

D O I：

10.1002/ajmg.1320450503

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported.

引用

页码：542 / 547

页数：6

共 11 条

[1]

AICARDI J, 1983, ARCH FR PEDIATR, V40, P625

[2] JOUBERT SYNDROME - EPISODIC HYPERPNEA, ABNORMAL EYE-MOVEMENTS, RETARDATION AND ATAXIA, ASSOCIATED WITH DYSPLASIA OF CEREBELLAR VERMIS [J].