Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndro...

studies have shown that there are psychiatric patients who tend to aggressively mutilate themselves; they burn or in most cases attempt to burn themselves, attempt to severely damage their genital organs (especially amputate their penis), castrate themselves, axtract their own eyes, amputate their own hands, or commit suicide. this report introduces two psychiatric men, aged 40 and 47, who had ...

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...

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 ...

how to cite this article: ashrafzadeh f, sadrnabavi a, akhondian j, beiraghi toosi m, mohammadi mh, hassanpour k. angelman syndrome: a case report. iran j child neurol. spring 2016; 10(2):86-89. abstract objective angelman syndrome (as) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. it occurs due to an...

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 yea...

Hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. This is also called the Van Wyk Grumbach syndrome. Here we present 4 cases of precocious puberty due to hypothyroidism.