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Camptomelic dysplasia: report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 Sep-Oct;37(5):381-3

Date

09/01/1996

Pubmed ID

8942036

Abstract

A typical case of camptomelic dysplasia was noted to have only prenatally bowed legs. The infant showed the following characteristic features: dolichocephaly, flat-appearing small face, low nasal bridge, micrognathia, cleft palate, anterior bowing of tibia with skin dimpling over convex surface, mild bowing of femurs, talipes equinovarus, and tracheomalacia. Because of poor prognosis, the parents decided not to resuscitate the baby aggressively and the baby died of respiratory failure at six days old. Although this disease is rare, it does happen in ethnic Chinese and, because it may be an inherited disease, a correct diagnosis for camptomelic dysplasia is very important.

Author List

Tsao PN, Teng RJ, Hwu WL, Tsou Yau KI, Wang TR

Author

Ru-Jeng Teng MD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Bone and Bones
Humans
Infant, Newborn
Male
jenkins-FCD Prod-478 d1509cf07a111124a2d122fd3df854cc0b993c00