نتایج جستجو برای: van wyk grumbach syndrome
تعداد نتایج: 686793 فیلتر نتایج به سال:
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 license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Dear editor We read with great interest the study by Van Wyk et al 1 which explores the beliefs and opinions held by final-year medical students on the impact of gender on their training and the medical profession they were about to enter. As fifth year medic...
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...
Adrenocortical hyperplasia is uncommon in childhood. It occurs as the adrenogenital syndrome (congenital virilism in girls) which has now been shown to be due to a congenital defect in the synthesis of cortisol by the adrenal cortex. In the United States its incidence is once in every 58,000 live births (Grumbach, 1956) and it has a recessive mode of inheritance. The disease is more easily diag...
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 ...
We study classes of innnite but nitely representable databases based on constraints, motivated by new database applications such as geographical databases. The mathematical framework is based on classical decidable rst-order theories. We investigate the theory of nitely representable models and prove that it diiers strongly from both classical model theory and nite model theory. In particular, ...
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