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Chondrodysplasia punctata, tibia-metacarpal (MT) type.

作者信息

Rittler M, Menger H, Spranger J

机构信息

Department of Pediatrics, University of Mainz, Federal Republic of Germany.

出版信息

Am J Med Genet. 1990 Oct;37(2):200-8. doi: 10.1002/ajmg.1320370208.

Abstract

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.

摘要

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