title: Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
abstract: OBJECTIVE
  To report a case of type 2 Antley-Bixler syndrome (ABS).
  
  
  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 perineal and transabdominal approach.
  
  
  RESULTS
  The postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery.
  
  
  CONCLUSIONS
  Repair 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.
authors: Victor Babes University of Medicine and Pharmacy, Timisoara, Romania.
authors: E S
authors: ES
authors: Boia
authors: M C
authors: MC
authors: Popoiu
authors: M
authors: M
authors: Puiu
authors: C M
authors: CM
authors: Stanciulescu
authors: V L
authors: VL
authors: David
mesh_terms: D054882:Antley-Bixler Syndrome Phenotype / Q000175:diagnosis*; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000601:surgery*; D006801:Humans; D008297:Male; D012727:Sex Characteristics