Bilateral Upper Limb Congenital Anomalies in a Neonate: A Case Report

Abstract

Congenital anomalies are diverse in nature and can affect multiple organ systems, posing significant diagnostic and management challenges. Among these, nubbins, characterised by the absence or underdevelopment of distal terminal phalanges, present a rare clinical finding. The present case report discusses a neonate born via normal vaginal delivery who demonstrated immediate cries upon birth. The patient’s clinical presentation led to a series of diagnostic investigations. The absence of distal terminal phalanges in both hands was concerning; however, radiographs of the forearms showed normal structural findings. The detection of mild Developmental Dysplasia of the Hip (DDH) on hip Ultrasonography (USG) necessitated regular monitoring with USG and radiographs of both hips to ensure proper hip joint development. The USG of the spine revealed no anomalies, which was reassuring. The most significant finding came from the Echocardiogram (ECHO), which identified a small ostium secundum Atrial Septal Defect (ASD) with mild tricuspid regurgitation and pulmonary hypertension. The present case underscores the importance of ongoing research and collaboration in advancing our understanding and management of rare congenital anomalies.

Keywords

• atrial septal defect
• developmental dysplasia of the hip
• nubbins
• symbrachydactyly