Concurrent presentation of Jeune syndrome features in a preterm infant born to a mother with gestational diabetes and hypertension: A rare case report

Abstract

Jeune syndrome, also known as Asphyxiating thoracic dysplasia, is an autosomal recessive osteochrondroplasia characterized by a small, narrow chest, and variable limb shortness resulting from primary cilia dysfunctionleading to respiratory distress. This syndrome gives rise to various complications, including renal, hepatic, pancreatic, and ocular issues. Another factor contributing to respiratory distress in newborns is preterm birth, often linked to maternal diabetes, which poses perinatal, fetal, and maternal risks. Several studies have demonstrated a correlation between maternal diabetes and higher risks of macrosomia, fetal death, fetal malformations, respiratory distress syndrome (RDS), neonatal hypoglycemia, birth injuries and shoulder dystocia. In this paper, we report a case of 30 + 1 weeks very preterm male born to a mother diagnosed with gestational diabetes and hypertension. Complications such as large ventricular septal defect (VSD), atrial septal defect (ASD), pulmonary stenosis, and pulmonary hypertension were observed. The infant also exhibited features associated with Jeune syndrome, such as syndactyly, polydactyly, and pectus excavatum.