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.
Clin Case Rep
Day ML, Avila CC, Novak DL. Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report. Clin Case Rep. 2022 Feb 16;10(2):e05453. doi: 10.1002/ccr3.5453. PMID: 35223016; PMCID: PMC8850395.