Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report
نویسندگان
چکیده
منابع مشابه
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. A surgical intervention was performed to correct the ambiguous genitalia through a combined perin...
متن کاملAmbiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There ...
متن کاملA Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
متن کاملProximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.
We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported befo...
متن کامل[Antley-Bixler syndrome or POR deficiency?].
Antley-Bixler syndrome (ABS) is a rare congenital disorder characterized by numerous craniofacial, skeletal and, in some cases, urogenital abnormalities resulting from disordered steroidogenesis. Known genetic causes in sporadic cases of ABS include dominant mutations in the fibroblast growth factor 2 receptor gene (FGFR2). Recent research shows surprisingly that symptoms of Antley-Bixler syndr...
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ژورنال
عنوان ژورنال: Medical Principles and Practice
سال: 2013
ISSN: 1011-7571,1423-0151
DOI: 10.1159/000356857