congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

Two families manifesting Glut1 deficiency syndrome (DS) as an autosomal recessive trait are described. In 1 family, a severely affected boy inherited a mutated allele from his asymptomatic heterozygous mother. A de novo mutation developed in the paternal allele, producing compound heterozygosity. In another family, 2 mildly affected sisters inherited mutations from their asymptomatic heterozygo...

cystic fibrosis is an inheritant autosomal recessive disease. it is associated with mutations in cystic fibrosis trans regulator gene (cftr) and has different presentations.we report two 2 month old female patients, products of a twin delivery presented with anemia, edema, hypoalbuminemia and pneumonia.after some work ups, diagnosis of cystic fibrosis was confirmed. this is an uncommon and inte...

mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...

background: familial dysautonomia (fd) is a rare hereditary syndrome which is an autosomal recessive trait that typically affects jewish children. important signs and symptoms of the disorder include; diminished pain perception, absence of overflow tears, hypotonia, fainting cardiac arrhythmias and autonomic crisis. cases report : in this article we reported 3 cases of fd syndrome which had pre...

background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

hallervorden-spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. the disease is caused by mutations in gene encoding pantothenate kinase 2 (pank2) and patients have pantothenate kinase-associated neurodegeneration. we present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...