Camptomelic dysplasia: report of one case.
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.
Tsao
P N
PN
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Teng
R J
RJ
Hwu
W L
WL
Tsou Yau
K I
KI
Wang
T R
TR
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male