Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.
Shun Hiruta, Hayato Go, Hajime Maeda et al.
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Case in brief
An infant born by emergency cesarean delivery at 34 weeks and 1 day weighed 994 g (-3.7 SD score). Cornelia de Lange syndrome (CdLS) was suspected from dysmorphic findings including forehead and femoral hirsutism, cleft palate, long philtrum, wide nostrils, toe syndactyly, and hypospadias. Chromosomal analysis showed a normal male karyotype (46,XY). Bilateral sensorineural hearing loss and atrial and ventricular septal defects were also identified. The infant developed a urinary tract infection and gastric volvulus during hospitalization, but survived without severe complications.
What made this case unusual
The report describes CdLS in an extremely low birth weight infant, a presentation with few prior reports. The infant’s very low birth weight occurred alongside multiple recognizable dysmorphic features and associated abnormalities.
Diagnostic / clinical pearl
In an extremely low birth weight infant, characteristic dysmorphic features can prompt suspicion of CdLS despite a normal karyotype; assess for associated hearing loss and cardiac defects.
Why it matters
The authors emphasize early recognition to anticipate complications, support timely multidisciplinary interventions, and facilitate long-term management.