Cargando…

Alagille-like syndrome with surprising karyotype: a case report

BACKGROUND: Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defined clinically by h...

Descripción completa

Detalles Bibliográficos
Autores principales:	Amimoto, S., Ishii, M., Tanaka, K., Araki, S., Kuwamura, M., Suga, S., Kondo, E., Shibata, E., Kusuhara, K., Yoshino, K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10131304/ https://www.ncbi.nlm.nih.gov/pubmed/37101309 http://dx.doi.org/10.1186/s13256-023-03810-7

Ejemplares similares

Alagille Syndrome and the Liver: Current Insights
por: P Singh, Shivaram, et al.
Publicado: (2018)

Management of adults with Alagille syndrome
por: Ayoub, Mohammed D., et al.
Publicado: (2023)

Alagille syndrome: clinical perspectives
por: Saleh, Maha, et al.
Publicado: (2016)

Alagille Syndrome Associated with Xerophthalmia
por: Moisseiev, Elad, et al.
Publicado: (2013)

Therapeutics Development for Alagille Syndrome
por: Sanchez, Phillip, et al.
Publicado: (2021)

Multidisciplinary Management of Alagille Syndrome
por: Menon, Jagadeesh, et al.
Publicado: (2022)

Neuroradiological findings in Alagille syndrome
por: D'Amico, Alessandra, et al.
Publicado: (2022)

Odevixibat Treatment of Alagille Syndrome: A Case Report
por: Ganschow, Rainer, et al.
Publicado: (2023)

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
por: da Palma, Mariana Matioli, et al.
Publicado: (2021)

Macrodontic maxillary incisor in alagille syndrome
por: Cozzani, Mauro, et al.
Publicado: (2012)

Extreme Renal Pathology in Alagille Syndrome
por: Bissonnette, Mei Lin Z., et al.
Publicado: (2016)

Alagille Syndrome: Diagnostic Challenges and Advances in Management
por: Ayoub, Mohammed D., et al.
Publicado: (2020)

Exocrine pancreatic function in children with Alagille syndrome
por: Gliwicz, Dorota, et al.
Publicado: (2016)

Clinical and Genetic Characteristics of Alagille Syndrome in Adults
por: Li, Jianguo, et al.
Publicado: (2023)

Williams syndrome presenting with findings consistent with Alagille syndrome
por: Sakhuja, Pankaj, et al.
Publicado: (2015)

Sarcoidosis in a young child with Alagille syndrome: a case report
por: Mannion, Melissa, et al.
Publicado: (2012)

Hepatocellular carcinoma in an adult with Alagille syndrome: case report and literature review
por: Schoen, Karla, et al.
Publicado: (2020)

Alagille Syndrome: A Novel Mutation in JAG1 Gene
por: Fischetto, Rita, et al.
Publicado: (2019)

Medical and dental management of Alagille syndrome: A review
por: Berniczei-Royko, Adam, et al.
Publicado: (2014)

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy
por: Dědič, Tomáš, et al.
Publicado: (2015)

Clinical and genetic analysis in Chinese children with Alagille syndrome
por: Chen, Ying, et al.
Publicado: (2022)

Sex differences and risk factors for bleeding in Alagille syndrome
por: Hankeova, Simona, et al.
Publicado: (2022)

A neonatal case of vascular ring with Alagille syndrome
por: Lee, Pei-Shan, et al.
Publicado: (2023)

Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome
por: Kamath, Binita M., et al.
Publicado: (2018)

Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome
por: Delaney, Siobhan, et al.
Publicado: (2019)

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome
por: Isa, Hasan M., et al.
Publicado: (2023)

A case of Alagille syndrome presenting with chronic cholestasis in an adult
por: Kim, Jihye, et al.
Publicado: (2017)

Epidermoid cyst in a patient with Alagille syndrome: Coincidence or connection?
por: Surapaneni, Akhil, et al.
Publicado: (2020)

Pulmonary artery pathologies in Alagille syndrome: a meta-analysis
por: Yuan, Shi-Min
Publicado: (2022)

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease
por: Semenova, Natalia, et al.
Publicado: (2023)

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study
por: Kamath, Binita M., et al.
Publicado: (2020)

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression
por: Bresnahan, James J., et al.
Publicado: (2016)

Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report
por: Ennaifer, R., et al.
Publicado: (2016)

Premature senescence of the liver in Alagille patients
por: Jannone, Giulia, et al.
Publicado: (2023)

Pseudotumor cerebri syndrome in a child with Alagille syndrome: intracranial pressure dynamics and treatment outcome after ventriculoperitoneal shunting
por: Polemikos, Manolis, et al.
Publicado: (2021)

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
por: Tsai, Ellen A., et al.
Publicado: (2016)

Unraveling the Relationship Between Itching, Scratch Scales, and Biomarkers in Children With Alagille Syndrome
por: Kamath, Binita M., et al.
Publicado: (2020)

Outcomes of internal biliary diversion using cholecystocolostomy for patients with severe Alagille syndrome
por: Durgin, Jonathan M, et al.
Publicado: (2022)

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
por: Jurkiewicz, Dorota, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_q0n6thi1n71cui5aafkm09mbc4