[Campomelia (author's transl)].
Campomelia is a clearcut syndrome showing angulation of femora and tibiae, hypoplastic fibulae, short distal phalanges of the fingers, and cleft palate. The cause is unknown. Familial occurrence has been observed but less often than expected on the basis of autosomal recessive inheritance. There is an apparent excess of cases in females, but female patients may have a male 46, XY caryotype. HY-antigen is lacking in these cases.
D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011859:Radiography; D012737:Sex Factors; D013577:Syndrome
Compomelie.