Cornelia de Lange syndrome in an extremely low birth weight infant: a case report

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by distinctive facial features, fetal growth restriction, intellectual disability, and hirsutism. Few reports have described extremely low birth weight (ELBW) infants with CdLS. We report an ELBW infant diagnosed with CdLS. The infant was delivered by emergency cesarean section at 34 weeks and 1 day of gestation, weighing 994 g (-3.7 SD score). A diagnosis of CdLS was suspected based on dysmorphic features, including forehead hirsutism, cleft palate, long philtrum, wide nostrils, syndactyly of toes, femoral hirsutism, and hypospadias. Chromosomal analysis revealed a normal male karyotype (46,XY). Bilateral sensorineural hearing loss was also confirmed. Additional findings included atrial and ventricular septal defects. During hospitalization, the infant developed urinary tract infection and gastric volvulus but survived without severe complications. This case highlights that early recognition of CdLS, even in ELBW infants, is important for anticipating complications and providing timely multidisciplinary interventions to mitigate severe complications and facilitate long-term management.