hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

keratosis follicularis spinulosa decalvans (kfsd) represents a rare, probably x-linked recessive genodermatosis, characterized by keratosis pilaris of face, trunk and extremities, followed by atrophy, cicatricial alopecia of the scalp, eyebrows and eyelashes, photophobia and corneal abnormalities. we report a rare case of kfsd and review the literature.

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...

alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...

congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...

BACKGROUND Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of rela...