ellis-van creveld syndrome is transmitted as an autosomal recessive trait. this syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large asd. patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

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...

A family is described in which HageImmunologic studies suggested that man trait appeared to be inherited in the molecular defect was similar to an autosomal dominant manner in that of the autosomal recessive form contrast to previously reported families and consisted of deficiency of antiin which the disorder behaves as an gens related to Hageman factor. autosomel recessive characteristic. H AG...

in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

BACKGROUND Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozygous mutations in 3 potassium channel genes, KVLQT1, KCNE1 (minK), and HERG, and...

the 35delg mutation in the connexin 26 gene (cx26), at the dnfb1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (arnshl). we have studied a total of 224 deaf cases from 189 families in two populations of iran (sistan va bluchestan and hormozgan provinces) by prescreening nested pcr, polyacrylamide gel electrophoresis and consequent direct s...

a 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. she had consanguinity with her husband. a female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. the disease locus was assigned to chromosome17q21. four days later, infant died of cardiopulmonary arrest.