Two forms of cutis laxa presenting in the newborn period.
Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa.
D000015:Abnormalities, Multiple; D003483:Cutis Laxa / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D004240:Diverticulum / Q000150:complications; D004547:Elastic Tissue / Q000473:pathology; D004646:Emphysema / Q000150:complications; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006548:Hernia, Diaphragmatic / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D008297:Male; D011379:Prognosis; D011859:Radiography; D012867:Skin / Q000473:pathology; D012886:Skull / Q000002:abnormalities