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| printer friendly | ADAMS-OLIVER SYNDROME | ||||||||||||||||||||
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Adams Oliver syndrome: Absence Defect of Limbs, Scalp and Scull; Congenital Scalp Defects with Distal Limb Reduction Anomalies. Adams Oliver syndrome is a rare disorder identified in 1945 by Dr F H Adams and Dr C P Oliver. The syndrome is characterised by congenital scalp and scull defects. These defects can range from mild, with some skin and hair defect, through to severe when there may be defects of the underlying bone. Although bald ulcerated areas of the scull usually heal on their own, occasionally plastic surgery is needed. Rarely, bleeding occurs from dilated veins that are sometimes associated with severe scalp defects. Other features that may occur include eye anomalies, accessory nipples cutis marmorata telangiectatica congenita, haemangiomas, skin tags and woolly hair. Although the underlying mechanism of the disease is not known it has been suggested that it could result from an early embryonic vascular abnormality. Intellectual development is generally within normal limits, even in individuals with large cranial bone defects, although learning disabilities have been reported. Limb defects, ranging from small fingers and toes through to severe involvement of long bones, can also occur. In very severe cases, the lower limb can be absent below mid-calf. However, it is common for people with the affected gene to have minimal scalp or limb abnormality. While surgery may be indicated for some of the scull defects, treatment is otherwise symptomatic. Management focuses on ameliorating the effects of any scull or limb defects. Inheritance patterns Prenatal diagnosis Medical text written December 1993 by Dr D Ravine, Senior Registrar, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. Last updated February 2003 by Contact a Family. Approved February 2003 by Mr D E Porter, Senior Lecturer & Hon. Consultant in Orthopaedic Surgery, University of Edinburgh, Edinburgh, UK. Further Online Resources
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