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

Morgan L. Day, Department of Pediatrics University of New Mexico Children's Hospital Albuquerque New Mexico USA
Crystal C. Avila, Department of Pediatrics University of New Mexico Children's Hospital Albuquerque New Mexico USA
Dawn L. Novak, Department of Neonatology University of New Mexico Children's Hospital Albuquerque New Mexico USA

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.