From neonatal signs to developmental delay: An infant with Wolf-Hirschhorn syndrome – a case study

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder with significant developmental, metabolic and craniofacial manifestations, highlighting the importance of continued research due to these challenges. This case report presents an 8-month-old female infant, born at term but classified as small for gestational age, who exhibited developmental delays, metabolic abnormalities and craniofacial dysmorphology characteristic of WHS. This report aimed to emphasise the clinical progression and diagnostic difficulties encountered in cases of WHS. Comprehensive genetic analyses and clinical evaluations were conducted, confirming the diagnosis. Key findings included recurrent respiratory distress with multiple failed weaning attempts, severe failure to thrive, seizures, sensorineural hearing loss, central hypotonia and feeding difficulties. Early neonatal complications and a prolonged, challenging stay in the neonatal intensive care unit were also noted, following which the infant was lost to follow-up until re-presenting at 8 months of age. This report underscores the necessity of early genetic screening and continuous follow-up for infants with congenital anomalies such as WHS. The findings may support paediatricians and neonatologists in the early identification and management of similar cases, thereby improving long-term outcomes