Del(2q)--cause of the wrinkly skin syndrome?

Abstract

We report the cases of a mother and her two sons with del(2) (q32). Their phenotypes are compared with those of 20 individuals reported previously in the literature. All described cases apparently have identical deletions. Common manifestations include small size at birth, retarded growth and development, cranio-facial dysmorphism and skeletal and ocular anomalies. Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, mental retardation and an old appearance. Our three patients show a striking pattern in skin biopsies when viewed by light microscopy, and a peculiar grimacing was noted in the boys. Their serum copper and caeruloplasmin levels are slightly raised.