Camptomelic dysplasia: report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996;37(5):381-3
Date
09/01/1996Pubmed ID
8942036Scopus ID
2-s2.0-0030226988 (requires institutional sign-in at Scopus site)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 TRAuthor
Ru-Jeng Teng MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleBone and Bones
Humans
Infant, Newborn
Male
