A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. gene mutation was located at 177251854 on chromosome 5, identified as shear mutation, c.4765+1 G > A, which new mutation. patient recovered well after symptomatic treatment. To best our knowledge, first infant whom novel A identified. When premature infants present with abnormally feeding difficulties, other anomalies, should be considered.