Skeletal changes in a case of Goltz's syndrome (focal dermal hypoplasia).
Goltz's syndrome (focal dermal hypoplasia) is a rare congenital disease only 50 cases of which have been recorded in the literature. Complex changes in the skin and the skeleton occur in this disease. Although the bone changes have been described in nearly all reported cases, these have only been reported in the orthopaedic literature in one case (Lynch, 1981) in which the disease was accompanied by an aneurysmal bone cyst in the pelvis. The disease is hereditary but is not sex-linked, although all the reported cases have been female. This is because the disease is lethal in males during gestation (Gorlin et al., 1963). The case reported by us, however, brought her pregnancy to term and gave birth to a male infant with no malformations either of the bones or the skin.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome