Campomelic dysplasia: evidence of autosomal dominant inheritance.
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
Lynch
S A
SA
Department of Genetics, Leeds General Infirmary, UK.
Gaunt
M L
ML
Minford
A M
AM
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D011859:Radiography