Clinical features of Adams Oliver syndrome in a rural hospital

Adams Oliver syndrome (AOS), a rare condition that is known to consist of Aplasia Cutis Congenita (ACC) with transverse terminal limb reduction anomalies, is a heterogeneous condition characterized by variable phenotypic manifestations. A four-hour old late preterm male new-born, sixth in a non-consanguineous monogamous family, was brought by parents to the local health facility because of a wound on the vertex noticed at birth. A non-inflammatory ulcer with haemorrhagic base on the vertex and an underlying skull defect (ACC) was found on physical examination. Other findings include respiratory distress and undescended testes. Notably, the patient had unusual limb deformities, as well as severe cardiac anomalies that led to his early demise. This case presents a new phenotype of AOS and highlights the need for further refinement of its diagnostic criteria.