Campomelic dysplasia without campomelia.
We present a male infant with campomelic dysplasia syndrome (McKusick 21197) in whom no bowing of the tibiae or femora was seen, but widely set nipples and long upper segment of the arm were observed. In accordance with two previous case reports, the present findings suggest that a campomelic dysplasia variant without campomelia may exist.
Decsi
T
T
Department of Pediatrics, University Medical School, Pécs, Hungary.
Botykai
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis*; D005269:Femur / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000000981:diagnostic imaging