total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. moreover, the clinical course and t...

genetic basis of diffrent arrhythmias has always been an intresting subject of resesrch for scientists. here i will review in brief the most common familia arrhythmias and the new findings regarding their mode of inhetitance. this paper will mainly focus on the genetic basis of the long qt syndromes but we will also have a short review of the genetics of three other familia congenital arrhythmo...

adverse effects of antiepileptic drugs including cutaneous reactions may not only affect the result of treatment and quality of life, but can also be fatal if severe. skin rash is more likely to occur during the first few months of treatment. the objective of this study was description of skin rashes in users of four antiepileptic drugs. we identified skin rashes of phenytoin, carbamazepine, so...

binder’s syndrome is an uncommon entity characterized by midfacial hypoplasia along with class iii incisal relationship. the individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. the current article presents two cases of this rare syndrome and describes its general features. key words: binder’s, midfacial hypoplasia, maxillofacial...

Poisoning remains a major cause of hospital admission into the emergency department and intensive care unit. Proper diagnosis is the cornerstone for optimal management of poisoned patients. Since the definitive analytical confirmation of the nature of the toxicant involved in the poisoning cannot be rapidly obtained in the majority of healthcare facilities, diagnosis relies on the medical histo...

abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...