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