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- E S Boia, M C Popoiu, M Puiu, C M Stanciulescu, and V L David.
- Victor Babes University of Medicine and Pharmacy, Timisoara, Romania.
- Med Princ Pract. 2014 Jan 1; 23 (4): 384-6.
ObjectiveTo report a case of type 2 Antley-Bixler syndrome (ABS).Subject And MethodsA 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 perineal and transabdominal approach.ResultsThe postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery.ConclusionRepair of the ambiguous genitalia in this patient was possible, but definitive inferences on the benefit of this intervention cannot be made without long-term follow-up.© 2013 S. Karger AG, Basel
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