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

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, typic...

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Bibliographic Details
Published in:Radiology case reports 2024-12, Vol.19 (12), p.5754-5757
Main Authors: Al-Obaidi, Ahmed Dheyaa, Al-Obiade, Reem, Al-Fatlawi, Nabeel, Al-Badri, Sajjad Ghanim, Al-Musawi, Mustafa, Hashim, Hashim Talib, Al-Zeena, Asma, Al-Obaidi, Mustafa Najah, Hashim, Ahmed Shamil, Al-Awad, Abdullah
Format: Article
Language:English
Subjects:
Asphyxiating thoracic dystrophy
Case Report
Early renal dysfunction
Jeune syndrome
Neonatal respiratory distress
Skeletal dysplasia
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Summary: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.
ISSN:1930-0433
1930-0433
DOI:10.1016/j.radcr.2024.08.108