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

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.

Hydrometrocolpos in an infant with urological complications: a rare case and review of literature

“…Hydrometrocolpos is a rare congenital condition with an incidence of about 0.006% [ 2–4 ]. It can be caused by imperforate hymen, transverse vaginal septum, cloacal malformation, distal vaginal agenesis and persistent urogenital sinus, with the former being the most prevalent congenital anomaly [ 1 , 3 , 5 , 6 ]. It is classified into five types based on the level of obstruction as well as the severity of the malformation: type I (imperforate hymen), type II (vaginal septum), type III (distal vagina agenesis), type IV (vaginal atresia with persistent urogenital sinus) and the last one is type V, the most severe form that is characterised by atresia of the vagina associated with cloacal malformation [ 7 ].…”

“…It is caused by the failure of drainage of cervical/vaginal mucous secretions as a result of distal vaginal obstruction. The condition can be isolated or syndromic [ 1 , 3 ]. Hydrometrocolpos presents with an abdominal mass and pressure related symptoms due to compression of nearby structures such as urinary bladder, bowel and blood vessels [ 1 , 4 ].…”