Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns. Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent. It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative tre...

introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...

Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns. Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent. It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative tre...

Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In  Iran, HL is one of the most common disabilitie...

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...

Keywords Disease name / synonyms Excluded Diseases Diagnosis criteria /definition Differential diagnosis Incidence Clinical Description Management including treatment Outcome Etiology Genetics Counseling Antenatal Diagnosis Unresolved questions References Abstract Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder of bone resorption (less than 1:200,000 births). It is c...

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...