Cargando…
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia – A Case Report
OBJECTIVE: To report a case of type 2 Antley-Bixler syndrome (ABS). SUBJECT AND METHODS: A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. Genetic testing confirmed the diagnosis of ABS....
Autores principales: | Boia, E.S., Popoiu, M.C., Puiu, M., Stanciulescu, C.M., David, V.L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586884/ https://www.ncbi.nlm.nih.gov/pubmed/24334858 http://dx.doi.org/10.1159/000356857 |
Ejemplares similares
-
A Case of Antley-Bixler Syndrome
por: Lahiri, Subhrajit, et al.
Publicado: (2012) -
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency
por: Oldani, Elena, et al.
Publicado: (2015) -
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused
por: Richards, C., et al.
Publicado: (2018) -
MON-060 P-450 Oxidoreductase Deficiency with Antley Bixler Phenotype: A Novel Mutation
por: Kumar, Anshul, et al.
Publicado: (2020) -
Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report
por: Li, Haibo, et al.
Publicado: (2021)