A case of Adams-Oliver Syndrome

V. Manikandasamy, Shanmuga Arumugasamy

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.


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References


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