Campomelic dysplasia. Further elucidation of a distinct entity.
Campomelic dysplasia is a distinct entity that should not be confused with other conditions associated with congenital bowing of the long bones. Evidence suggests that some affected males have female external genitalia, and vagina, uterus, and fallopian tubes. Examination of a newly reported sibling pair has increased support for autosomal recessive inheritance in campomelic dysplasia.
D001848:Bone Diseases, Developmental / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics; D012734:Disorders of Sex Development / Q000145:classification; D004392:Dwarfism / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D011859:Radiography; D013577:Syndrome