Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review
نویسندگان
چکیده
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Sobieszczańska-Droździel A, Kalicka-Żuk K, Bieniaś B. Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review. Pediatria Polska - Polish Journal Paediatrics. 2022;97(1):61-65. doi:10.5114/polp.2022.114718. APA Sobieszczańska-Droździel, A., Kalicka-Żuk, K., & Bieniaś, (2022). Paediatrics, 97(1), 61-65. https://doi.org/10.5114/polp.2022.114718 Chicago Aleksandra, Karolina Beata Bieniaś. 2022. "Late review". Paediatrics 97 (1): Harvard pp.61-65. MLA Aleksandra et al. review." vol. 97, no. 1, 2022, pp. Vancouver
منابع مشابه
A Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کامل[A case report of Bardet-Biedl syndrome].
The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome.
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This figure shows the hexadactyly of feet and severe inflammation of the lower limbs of a 32-year-old Iranian female patient with Bardet–Biedl syndrome (BBS) who was referred to us with uraemic symptoms and metabolic acidosis. She had suffered from insulin-resistant type 2 diabetes mellitus for 2 years and moderate hypertension for 6 months. Her parents had noticed progressive decline in her vi...
متن کاملNephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report
Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet...
متن کاملBardet-Biedl Syndrome: A Rare Case Report
The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neuro...
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ژورنال
عنوان ژورنال: Pediatria polska
سال: 2022
ISSN: ['2300-8660', '0031-3939']
DOI: https://doi.org/10.5114/polp.2022.114718