指-肾-脑综合征：埃罗宁综合征的确认。

Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.

作者信息

Le Merrer M, David A, Goutieres F, Briard M L

机构信息

U.12 Unité de Recherche INSERM sur les Handicaps Génétiques de l'Enfant, Hôpital des Enfants-Malades, Paris, France.

出版信息

Clin Genet. 1992 Oct;42(4):196-8. doi: 10.1111/j.1399-0004.1992.tb03236.x.

DOI:10.1111/j.1399-0004.1992.tb03236.x

PMID:1424243

Abstract

In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.

摘要

1985年，埃罗宁等人描述了一种新的常染色体隐性综合征，其特征为脚趾和手指远端指骨缺失、肾脏缺陷和脑部异常（脑室扩张或癫痫发作）。两名患有该综合征的非亲属儿童使我们能够确认其独立性并明确其分类学。文中强调了肾脏和脑部表现的表达变异性。