Rubinstein–Taybi syndrome in a late preterm neonate: A case report highlighting clinical diagnosis

Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterised by distinctive craniofacial features, broad thumbs and toes, microcephaly and neurodevelopmental delays. We report a case of a late preterm neonate presenting with respiratory distress and multiple dysmorphic features, including broad angulated thumbs and great toes, microcephaly, low-set ears and micrognathia. Neuroimaging showed mild thinning of the corpus callosum, and a small patent foramen ovale was noted on echocardiography. Despite normal genetic testing, a clinical diagnosis of RTS was made based on characteristic phenotypic features. Early supportive care with Kangaroo Mother Care, gradual feeding transitions and multidisciplinary follow-up were initiated. This case underscores the importance of clinical recognition in diagnosing syndromic disorders, particularly when genetic confirmation is inconclusive.