نتایج جستجو برای: ectodermal dysplasia

تعداد نتایج: 30772  

بابایی, سمیه, ترحمی, محمدرضا , طاهری, جمیله‌بیگم, عظیمی, سمیه, مرتضوی, حامد,

  Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications.   Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...

2017
Nidhi Chhabra Anuj Chhabra Ruchi Mehta

Ectodermal dysplasia is a heterogeneous hereditary disorder characterized by aplasia or dysplasia of tissues of ectodermal origin, such as skin, hair, teeth, and sweat glands and nails [1]. Ectodermal dysplasia syndrome was first described by Thurman in 1848 [2]. Although about 170 different subtypes of Ectodermal dysplasia have been recognized, these disorders are considered to be relatively r...

Journal: :Česká stomatologie/Praktické zubní lékařství 2013

2014
Vikas Setia Achla Bharti Yadav Sumit Kumar Yadav Shikha Gupta Rupinder Bansal Bharat Kedia

Ectodermal Dysplasia is a large, heterogeneous group of inherited disorders, the manifestations of which could be seen in more than one ectodermal derivates. These tissues primarily are the skin, hair, nails, exocrine glands and teeth. The most common form of ectodermal dysplasia is Anhidrotic Ectodermal Dysplasia. This case report describes a method of restoring function and aesthetics in a 8-...

ژورنال: مجله دندانپزشکی 1998
افشار, حسین , پیغمبری, سید محمد مهدی ,

One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart disease, ectodermal dysplasia, polyductyly, an abnormally wide labial renum and maxillary molars with single root.

Journal: :Archives of disease in childhood 1995
M Abinun

EDITOR,-Immunodeficiency has been previously described in patients with ectodermal dysplasial; surprisingly it was not mentioned at all in the recent review article on ectodermal dysplasia in this journal.2 Immunodeficiency is not a constant feature in all patients with ectodermal dysplasia, it is often transient and variable and no consistent T or B cell abnormality has been found.' The exact ...

Journal: :international journal of molecular and cellular medicine 0
shahram torkamandi department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) milad gholami department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) javad mohammadi asl ahvaz jundishapour university of medical sciences, ahvaz, iran.سازمان های دیگر: . noor genetics laboratory, ahvaz, iran somaye rezaie department of neurology, imam hossein hospital, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) mohammad ali zaimy department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) mir davood omrani department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...

2013
Rahul Prasad Abdulaziz Abdullah Al-Kheraif Nidhi Kathuria Ravikumar Ramakrishnaiah

Ectodermal dysplasia is a genetic disorder in which there are congenital birth abnormalities of 2 or more ectodermal structures. The management of ectodermal dysplasia is complicated due to the craniofacial dysmorphology, wide array of dento-facial defects and because the individuals are quite young when they are evaluated for treatment. This article reviews the various dental treatment options...

Journal: :European journal of medical genetics 2008
Mariella Valenzise Teresa Arrigo Francesco De Luca Agata Privitera Alessandro Frigiola Adriana Carando Emanuela Garelli Margherita Silengo

Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Ma...

Journal: :Acta dermato-venereologica 2014
Mathias Tiedemann Svendsen Emil Henningsen Jens Michael Hertz Dorthe Vestergaard Grejsen Anette Bygum

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic case...

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