External Genital Aplasia with PruneBelly Syndrome in a Female Foetus - A Rare Case Report

Abstract

The Prune-Belly Syndrome (PBS) is a rare congenital anomaly with unknown etiology that is characterised by the triad of absent or a deficient development of the abdominal muscles, bilateral cryptorchidism and an anomalous urinary tract. This condition occurs only in males in its full form. However, a similar condition occurs in females in the absence of cryptorchidism and presence of triad showing abdominal musculature deficiency, anomalies of urinary and genital system. A 22-week-old dead foetus after abortion had foetal abnormalities like Potter’s facies, distended abdomen, absent genitalia, absent urethral orifice, absent vaginal orifice, talipes equino varus and gross oligohydramnios was donated to Anatomy Department, for further evaluations. On autopsy, it was found to have grossly dilated urinary bladder filling entire abdominal cavity, female internal genital organs, urethral atresia, vaginal atresia, bilateral hydroureteronephrosis, two hemivaginae entering into the urinary bladder, uterus didelphys, bowel loops on right side below the liver and hypoplastic lungs. The histopathological examination of the uterus, both fallopian tubes and ovary was done. Only few cases of female counterpart of PBS have been discussed in literature so far.

Keywords

• abdominal wall deficiency
• skeletal abnormalities
• urogenital anomalies
• urinary bladder
• urethral artesia