Adams Oliver Syndrome- A Rare Entity

Abstract

Adams-Oliver syndrome (AOS) is a rare congenital disorder with an incidence of 1 in 225,000 individuals. It is characterised by the presence of Aplasia Cutis Congenita (ACC) of the scalp and transverse limb defects. The authors herein describes a rare case of late preterm (36-weeks) male neonate born with cranial vault defect and transverse limb defect in the form of constricted short fingers of bilateral hand with Atrial Septal Defect (ASD) diagnosed on Echocardiography (ECHO) while screening. No other associated anomalies were found. Baby was diagnosed as AOS based on these features. Patient was clinically stable with no signs of complications due to skull defect. Multidisciplinary team was involved in management and closure of skull defect was planned if not closed spontaneously in follow-up and early physical therapy or prosthetic application for the limb defects was planned as the child grows. Since the ASD was small, parents were reassured about the spontaneous closure with regular two dimensional (2D) ECHO monitoring. On follow-up at nine months of age, scalp defect closed spontaneously and child is growing well. Clinicians should be aware and all the babies born with ACC and scalp defect should be evaluated for associated anomalies as it can be a part of AOS. The early evaluation and management can be planned accordingly for better outcome.

Keywords

• aplasia cutis congenita
• atrial septal defect
• transverse limb defects