Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed a...

Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon combined müllerian duct anomalies (MDAs) and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. ...

UNLABELLED To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryolo...

AIMS A review of recent knowledge on heredital syndromes related to renal cell carcinoma. METHODS Aim of this review was to summarize the recent knowledge of genetic syndromes associated with renal cell carcinoma. RESULTS Summary of incidence and factors modulating risk of hereditary renal cell carcinoma development. CONCLUSIONS Hereditary forms of RCC are relatively rare. Their study is ...

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of mullerian duct anomalies characterized by the triad uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis. We report two cases HWW in young women with abdominal pain. This diagnosis can easily be missed if clinician not aware syndrome. In one case, computed tomography image hematocolpos was initially mistaken for cys...

There are many reasons for solitary kidney. Congenital causes include renal agenesis and dysplasia. Acquired nephrectomy performed including traumatic kidney injury, disease (e.g., cell carcinoma), donation transplantation. According to the European Association of Urology, World Society Emergency Surgery, American Surgery Trauma guidelines, it is important preserve remaining function as much po...

Following in the footsteps of Billard and Ballantyne, Edith Potter founded from the 1930s onwards the modern subspecialty of perinatal pathology. Her name is eponymously linked with the facial characteristics of infants with bilateral renal agenesis.

Sirenomelia is an uncommon congenital malformation. We describe a newborn with clinical features of sirenomelia with fused lower limbs, anal atresia, bilateral renal agenesis and a single umbilical artery.