1. Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation
- Author
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Ahmed Dheyaa Al-Obaidi, Reem Al-Obiade, Nabeel Al-Fatlawi, Sajjad Ghanim Al-Badri, Mustafa Al-Musawi, Hashim Talib Hashim, Asma Al-Zeena, Mustafa Najah Al-Obaidi, Ahmed Shamil Hashim, and Abdullah Al-Awad
- Subjects
Jeune syndrome ,Early renal dysfunction ,Asphyxiating thoracic dystrophy ,Neonatal respiratory distress ,Skeletal dysplasia ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - 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.
- Published
- 2024
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