ARTHROGRYPOSIS, CHOLESTATIC PIGMENTARY LIVER-DISEASE AND RENAL DYSFUNCTION - REPORT OF A 2ND FAMILY

被引：20

作者：

DIROCCO, M

REBOA, E

BARABINO, A

LARNAOUT, A

CANEPA, M

SAVIOLI, C

CREMONTE, M

BORRONE, C

机构：

[1] IST GIANNINA GASLINI,DIV PEDIAT 2,VIA V MAGGIO 39,I-16148 GENOA,ITALY

[2] CATHOLIC UNIV LOUVAIN,SERV NEUROL PEDIAT,B-1200 BRUSSELS,BELGIUM

[3] ENTE OSPED GALLIERA,GENOA,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 02期

关键词：

recessive inheritance; X-linked inheritance;

D O I：

10.1002/ajmg.1320370214

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

引用

页码：237 / 240

页数：4