Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report

Abstract

Abstract This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet–Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.

Keywords

• Bardet–Biedl Syndrome
• hydrometrocolpos
• McKusick–Kaufman Syndrome
• post‐axial polydactyly