The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpo...

Although Imperforate hymen is a rare condition, it is the most common obstructive anomaly of the female genital tract. The early diagnosis of this condition requires a high index of suspicion in newborns and in females without a history of menarche. Hydronephrosis is a known but rare complication of an imperforate hymen. Hereby we preset 2 cases of premenstrual adolescent with urinary retention...

To cite: Ramphul M, Perry L, Bhatia C. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016215434 DESCRIPTION A 34+4 weeks neonate was born by spontaneous vaginal delivery with normal antenatal scans. Routine neonatal examination revealed the absence of a vaginal opening with bulging of vaginal introitus (figure 1). Urethral and anal openings were patent. A provis...

The majority of hearts in which selective right or left atrial angiography shows no direct communication between one atrium and a ventricular chamber are considered to be examples of atresia of the right or left atrioventricular valves. Most patients presenting with the clinical features of tricuspid atresia have an absent right atrioventricular connection, while those with features of mitral a...

Our purpose is to present the ultrasonographic findings of a rare case of prenatally and postnatally congenital hydrometrocolpos secondary to imperforate hymen. By ultrasonography (US) at 38 weeks of gestation, a retrovesical, 60 x 43 mm pelvic cystic mass, was demonstrated in a female fetus. After delivery, US of the newborn revealed a 77 x 60 mm retrovesical, pear-shaped cystic structure with...

Introduction: Combination of congenital diaphragmatic hernia (CDH) and anorectal malformation (ARM) is rare. In this report, we describe a combination of imperforate anus and CDH in one of twins who conceived by Assisted Reproductive Technology (ART). Case Report: A female preterm newborn at 27 weeks of gestation was referred to our neonatal intensive care unit due to respiratory distress. S...

the standard approach to management of high imperforate anus is colostomy in the newborn period followed by posterior saggital anorectoplasty (psarp) at 6 to 12 months of age. the purpose of this study was to determine whether a one-stage repair by primary psarp in the newborn period could be performed without clear determent to the patient’s functional result. totally 30 newborns with high imp...

The presence of both a uterovaginal septum and imperforate hymen is described in a young patient presenting with ongoing chronic pelvic pain and a double pyocolpos. Ultrasound and magnetic resonance imaging scans were performed. The patient underwent laparoscopic adesiolysis, hymenotomy with drainage of 200 mL of pus, and excision of a complete longitudinal vaginal septum. Over the past 5 years...