The study comprised 25 patients with Syndromic genetic hearing loss. They were selected from the Audiology Unit, Faculty of Medicine, and the Human Genetics clinic, Medical Research Institute, , Alexandria University. Their ages ranged from 2.5 to 19 years. Males were more affected than females (M/F ratio = 2:1). T he high parental consanguinity (63.2 %) emphasizes the contribution of autosomal...

Introduction: Donnai–Barrow syndrome is a rare autosomal recessive disorder first described in 1993 and characterized by diaphragmatic hernia, hypertelorism, agenesis of the corpus callosum and deafness. Case Report: A 23­year­old female with clinical features similar to Turner patients were sent to our department by cardiology department. The main features were umblical hernia, hypertelorism (...

introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...

Deafness is inherited most commonly following autosomal recessive mode of inheritance as isolated clinical finding .Genetic and clinical heterogeneity of disorder prevent pooling of affected families and is a big barrier in gene mapping by conventional techniques. However, because of consanguinity, linkage analysis can be used to find disease causing loci /genes in small nuclear families. This ...

Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf males and suggests that 5% of congenital male deafness was the result of sex l...