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...

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...

heredity hearing loss (hl) is the most prevalent sensory disorder and most cases are non-syndromic. eighty percent of non-syndromic sensorineural deaf patients show an autosomal recessive pattern of inheritance. to date, 47 genes and 98 loci have been reported for this mode of inheritance. previous studies in our center showed the high prevalence of dfnb3 among iranian deaf families. pjvk (dfnb...

this study aimed to investigate the contribution of four common dfnb (“dfn” for deafness and “b” for autosomal resessive locus) loci and gjb2 gene mutations (exon 2) in hearing impairment in individuals living in markazi and qom provinces of iran. forty consanguineous iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

: Wilson disease (WD) is an autosomal recessive with copper overload. Its clinical picture depends on specific tissue/system damage by the excess copper.