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

Autor: 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, Abdullah Al-Awad
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Radiology Case Reports, Vol 19, Iss 12, Pp 5754-5757 (2024)
Druh dokumentu: article
ISSN: 1930-0433
DOI: 10.1016/j.radcr.2024.08.108
Popis: 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.
Databáze: Directory of Open Access Journals