CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL (MT) TYPE

被引：30

作者：

RITTLER, M ^{[1
]}

MENGER, H ^{[1
]}

SPRANGER, J ^{[1
]}

机构：

[1] UNIV MAINZ,DEPT PEDIAT,KINDERKLIN,LANGENBECKSTR 1,W-6500 MAINZ,GERMANY

来源：

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

关键词：

calcific stippling; radiologic manifestations; short stature;

D O I：

10.1002/ajmg.1320370208

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.

引用

页码：200 / 208

页数：9

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