Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

Background: Sj?gren’s syndrome is an autoimmune syndrome involving the exocrine glands specially the salivary and lacrimal glands leading to xerostomia and xerophtalmia. This paper presents a case with primary Sj?gren’s syndrome that severe dental caries were the first clinical manifestation. Case Presentation: A 42-year-old man was referred to the School of Dentistry, Tehran University of Medi...

how to cite this article: karimzadeh p, bakhshandeh bali mk, nasehi mm, taheri otaghsara sm, ghofrani m. atypical findings of guillain-barré syndrome in children. iran j child neurol autumn 2012;6(4):17-22.   abstract objective guillain-barre syndrome (gbs) is an immune-mediated polyneuropathy that occurs mostly after  prior infection. the diagnosis of this syndrome is dependent heavily on the ...

normal 0 false false false en-us x-none fa background : an inverse association between serum adiponectin level and metabolic syndrome was seen in few studies. the aim of this study was to assess the association between serum adiponectin levels and metabolic syndrome in a sample of iranian women from kerman. methods : in a cross-sectional study 946 subjects were studied to determine the prevalen...

abstract: griscelli syndrome (gs) is a rare disease first described in 1978. it is inherited in autosomal recessive pattern. this disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation. we report a 5 months old iranian girl presenting with silver-gray hair,eyelashes and ...

introduction: nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. the cause of the abnormal development of the pharyngeal arches in nager syndrome is unknown. it is also unclear why affected individuals have bone abnormalities in their arms and legs. nager syndrome is thought to have an autosomal recessive inheritan...

purpose: to report a case of proteus syndrome with new ophthalmic findings not reported elsewhere. patient and findings: the patient is an 18-year-old girl with red lesions on hand and foot from birth and disproportionate growth of right upper and lower limbs from the first year of life. on examination, the patient has enlargement of the right upper and lower limb, macrodactyly, vascular malfor...

turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abn...

the radiologic features of intralobar pulmonary sequestration (ilps) have been describe and include the identification of a feeding systemic artery with venous drainage through pulmonary veins. primary sequestration associated with typical hamartoma signs is really rare and has been described only once. we describe a patient with ilps whose radiographic findings were unusual for two reasons. fi...