Congenital cutis laxa and osteoporosis.
A 16-month-old male infant was studied who had a syndrome of cutis laxa and incapacitating osteoporosis. The bones displayed evidence of multiple fractures, with impaction and deformities even in the absence of weight bearing. In addition, the infant had large ears and antimongoloid obliquity of the palpebral fissures.
D003241:Consanguinity; D003483:Cutis Laxa / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D010024:Osteoporosis / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome