两姐妹患轻度若恩综合征。

Mild form of Jeune syndrome in two sisters.

作者信息

Giorgi P L, Gabrielli O, Bonifazi V, Catassi C, Coppa G V

机构信息

Department of Pediatrics, University of Ancona, Italy.

出版信息

Am J Med Genet. 1990 Feb;35(2):280-2. doi: 10.1002/ajmg.1320350227.

DOI:10.1002/ajmg.1320350227

PMID:2309769

Abstract

Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life. However, some cases with milder clinical manifestations have been described; these cases show characteristic renal involvement of different severity. The authors report on two cases of the mild form of Jeune syndrome in sisters.

摘要

儒内综合征的特征为呼吸窘迫、骨发育异常和身材矮小。患者通常在出生后的头几个月内死亡。然而，也有一些临床表现较轻的病例被描述；这些病例显示出不同严重程度的特征性肾脏受累情况。作者报告了两例姐妹患轻度儒内综合征的病例。