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 perineal and transabdominal approach.
Results:
The postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery.
Conclusion:
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.