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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.
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http://dx.doi.org/10.1016/j.radcr.2024.08.108 | DOI Listing |
Interdiscip Cardiovasc Thorac Surg
September 2025
Department of Chest Wall Surgery, Guangdong Second Provincial People's Hospital, Guangzhou, 510422, China.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare and serious genetic condition; its incidence in adult populations is even rarer. A 25-year-old male had a 10-year history of chest wall deformity and progressive dyspnoea. A complex chest wall reconstruction, along with the excision of bone tumours, was performed in view of critical hypoxia.
View Article and Find Full Text PDFOphthalmic Genet
August 2025
Department of Pediatric Genetics, Hacettepe University School of Medicine, Ankara, Turkey.
Jeune syndrome is an autosomal recessive chondrodysplasia characterized by skeletal deformities and extra-skeletal organ involvement. Retinal astrocytic hamartomas (astrocytomas) are benign glial cell 10 15 Q1 tumors that are generally asymptomatic and diagnosed incidentally. The IFT74 gene is responsible for the formation of IFT proteins, which play a major role in ciliogenesis.
View Article and Find Full Text PDFInt J Med Inform
November 2025
Clinical Bioinformatics Lab, Université Paris Cité, Institut Imagine, INSERM UMR 1163, Paris, France; Université Paris Cité, Paris, France; Département d'informatique Médicale, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.
Background: Patients with rare diseases frequently experience misdiagnoses and long diagnostic delays. Accelerating their diagnosis is essential to ensure timely access to appropriate care. Given the increasing availability of EHRs, combining artificial intelligence and deep phenotyping from large-scale clinical databases offers a promising approach to identify undiagnosed patients.
View Article and Find Full Text PDFJ Med Genet
June 2025
Department of Clinical Genetics, South West Thames Regional Genetic Services, London, UK
Introduction: -related short-rib thoracic dysplasia with/without polydactyly (SRTD), formerly asphyxiating thoracic dystrophy-Jeune syndrome, is a rare genetic skeletal disorder characterised by a narrow thorax, short ribs, shortened long bones and brachydactyly/polydactyly. -related SRTD shows significant phenotypic variability. There is limited information regarding correlations between genotypes, antenatal ultrasound findings and clinical phenotypes and severity.
View Article and Find Full Text PDFTurk J Ophthalmol
February 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
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