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...

Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of...

PURPOSE To predict the progression to legal blindness in patients with isolated inherited retinitis pigmentosa. METHODS This retrospective study evaluated patients with isolated inherited retinitis pigmentosa for age at onset, duration of the disease, and best-corrected visual acuity in an Asian Indian cohort. The Mann–Whitney U test was used to analyze the variables. RESULTS Of 134 patient...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...