A healthy baby, six months old, was brought to the Duchess of York Hospital, Manchester, in July, 1946, suffering from phimosis. It was noticed that his hands were deformed. His mother, formerly a nurse, was herself normal, but stated that the child's father and grandfather and -several other relatives were similarly affected. She was, therefore, asked to collect further information, from which...

Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.

Congenital uterine anomalies are often asymptomatic. They may present with infertility, recurrent miscarriage, preterm delivery, abnormal lie in pregnancy and other obstetric complications. We report the case of a 38-year old patient with unicornuate uterus without rudimentary horn and with unilateral left ovarian agenesis and unilateral left renal agenesis who gave birth to eleven children. An...

Potter syndrome (PS) is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fluid volume secondary to renal diseases such as bilateral renal agenesis (BRA). Other causes are abstraction of the urinary tract, autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD) and renal hypoplasia. I...

Persistent urogenital sinus (PUGS) is an uncommon developmental cloacal anomaly, with Incidence of 0.6 in 10000 female births. Herein we depict the case a 22-year age lady who presented Infertility for 16 months dyspareunia and was found to have associated other anomalies as unilateral rudimentary horn ipsilateral renal agenesis contralateral dermoid cyst. The patient successfully treated excis...

Abstract Background Zinner syndrome is a rare Wolffian duct anomaly presenting as triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst and ejaculatory obstruction. The condition due to developmental leading malformation the mesonephric duct. Magnetic resonance imaging considered be gold standard for diagnosis syndrome. Due limited number cases reported in literature, association...

The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine h...

Birth frequency of bilateral renal agenesis SIR, In a family study of renal agenesis (J Med Genet 1979; 16: 176-88), we reported an estimate of the birth frequency in 1974 of bilateral renal agenesis, based on death and stillbirth certificates supplied by OPCS, which gave Potter's syndrome, or a not fully specified renal anomaly or agenesis, as an underlying or one of multiple causes of death. ...

Alagille Syndrome (OMIM 118450) is a multisystem developmental disorder inherited in an autosomal dominant pattern with variable expression. It commonly manifests in children with early cholestatic jaundice due to paucity of interlobular biliary ducts. Renal involvement is less common but can take various forms including renovascular disease, renal agenesis or hypoplasia, cystic renal disease, ...