Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation

Abstract

Jeune syndrome, a rare autosomal recessive disorder, is characterized by skeletal abnormalities, particularly a narrow, bell-shaped chest, leading to severe respiratory distress in newborns. This case report details a full-term female neonate presenting with significant respiratory challenges, typical skeletal features, and early-onset renal dysfunction. Despite normal initial imaging, persistent renal abnormalities were observed, underscoring the need for early diagnosis, vigilant monitoring, and a multidisciplinary management approach to optimize outcomes for patients with Jeune syndrome.

Keywords

• Jeune syndrome
• Early renal dysfunction
• Asphyxiating thoracic dystrophy
• Neonatal respiratory distress
• Skeletal dysplasia