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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Published inRadiology case reports Vol. 19; no. 12; pp. 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 Journal Article
LanguageEnglish
Published Netherlands Elsevier Inc 01.12.2024
Elsevier
Subjects
Asphyxiating thoracic dystrophy
Case Report
Early renal dysfunction
Jeune syndrome
Neonatal respiratory distress
Skeletal dysplasia
Skeletal dysplasia
Neonatal respiratory distress
Early renal dysfunction
Asphyxiating thoracic dystrophy
Jeune syndrome
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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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:1930-0433
1930-0433
DOI:10.1016/j.radcr.2024.08.108