Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented.
Prasad
C
C
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada. cprasad@hsc.mb.ca
Cramer
B C
BC
Pushpanathan
C
C
Crowley
M C
MC
Ives
E J
EJ
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D011859:Radiography; D014463:Ultrasonography