A case of Adams-Oliver Syndrome
Abstract
A late preterm, 2.3kg, Male child was born to P2L2 mother by Normal Vaginal Delivery. Baby had a large scalp defect, acrania with hypoplastic and absent digits. Acrania portion of the skull was covered by a thick membrane. X-ray skullshowed absence of skull vault, X-ray of extremities showed hypoplastic and absent digits. Neurosonogram was normal. Echocardiography done showed moderate PDA with left to right shunt. CT brain was normal. Child was diagnosed as a case of Adams – Oliver syndrome. It is an autosomal dominant disorder comprises aplasia cutis congenita with terminal transverse limb defects.
Downloads
References
2. Whitley CB, Gorlin RJ. Adams- Oliver syndrome revisited. Am J Med Genet. 1991 Sep 1;40(3):319-26. [PubMed]
3. Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver Syndrome: A family with variability in clinical expression. American Journal of Medical genetics 1994 Feb 15; 49(4): 393-96.
4. Kuster W, Lenz W, Kaariainen H, Majewski F. Congenital Scalp Defects With Distal Limb Anomalies (Adams-Oliver Syndrome): Report of Ten Cases and Review of the Literature. Americal Journal of Medical Genetics 1988; 31: 99-115.
Copyright (c) 2017 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.