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. ...

Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type transmission and heterogeneous clinical picture, which depends on the gene mutation. The leptomeningeal form is rare phenotypic variant predominant involvement brain spinal cord meninges, as well cortical meningeal vessels. main manifestations this phenotype include cephalalgic syndrome, episodes...

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...

A 21-year-old Grenadian girl undergoing investigation in Trinidad for anaemia was diagnosed as a case of hereditary nephritis. She had the clinical features of a nephropathy, nerve deafness and an ocular defect. Renal histology was exceptional in that in addition to the typical findings of a hereditary nephritis, cystic areas generally associated with medullary cystic disease were noted. Severa...

Congenitally missing teeth, the most common dental anomaly, refers to teeth whose germ did not develop sufficiently allow differentiation of tissues.
 This study aimed determine importance genetic investigations on oral health-related quality life in children with congenitally lateral incisors.
 We are presenting a performed by A.S. Division Medical Genetics, Bucharest, Romania, case ...

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 ...