We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable cli...

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. ...

Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies...

BACKGROUND Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD) is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases. METHODOL...

Of thirty-nine patients with Klippel-Feil syndrome, twenty-five (64 per cent) had significant genitourinary-tract anomalies demonstrated by intravenous urogram and physical examination. The incidence of these anomalies in Feil's three types of the syndrome was essentially the same, unilateral renal agenesis being the most common. A routine intravenous urogram is indicated in patients with this ...

35-year-old patient, G3C1A1 with no significant medical history. At the 20-week scan, female fetus was diagnosed an isolated unilateral left renal agenesis. A meticulous follow-up performed at 28 weeks, observing a cystic mass in retrovesical space, measuring 8x5cm without Doppler uptake and located on side. The anal sphincter bowel lopps were normal. Follow-up carried out 32 36 weeks uterine m...