Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a wide spectrum of clinical severity, ranging from mild to severe forms, and is typically associated with distinctive facial features, growth retardation, and multiple congenital anomalies. We report the case of a 10-day-old male newborn, born at term to non-consanguineous parents, who was admitted for respiratory distress, feeding refusal, and hypotonia. On examination, the patient presented with shock, cyanosis, severe respiratory distress, and marked hypotonia. Dysmorphic facial features were noted, along with bilateral ectrodactyly of the hands, micropenis, and bilateral cryptorchidism. Biological and radiological investigations did not identify any infectious or structural etiology. The diagnosis of CdLS was established based on clinical findings. Despite intensive care management, the patient's condition rapidly worsened, culminating in cardiac arrest with unsuccessful resuscitation. This case highlights a severe neonatal presentation of CdLS with a fatal outcome and underscores the importance of early recognition, multidisciplinary management, and genetic counseling, given the poor prognosis associated with severe forms.