نتایج جستجو برای: ectodermal dysplasia

تعداد نتایج: 30772  

2015
Virender Kumar Lalit Kumar

Virender Kumar, Lalit Kumar Dr HSJ Institute of Dental Sciences and Hospital Panjab University Chandigarh, India Ectodermal dysplasia (ED) is a hereditary disease characterized by anomalies in the structures of ectodermal origin. The disease affects skin, saliva, sebaceous and sweat glands (anhidrosis or hypohidrosis), hair (atrichosis or hypotrichosis), nail and teeth (anodontia or hypodontia)...

2014
Alice F Goodwin Jacinda R Larson Kyle B Jones Denise K Liberton Maya Landan Zhifeng Wang Anne Boekelheide Margaret Langham Vagan Mushegyan Snehlata Oberoi Rosalie Brao Timothy Wen Ramsey Johnson Kenneth Huttner Dorothy K Grange Richard A Spritz Benedikt Hallgrímsson Andrew H Jheon Ophir D Klein

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ec...

Journal: :American journal of medical genetics. Part A 2013
Kyle B Jones Alice F Goodwin Maya Landan Kerstin Seidel Dong-Kha Tran Jacob Hogue Miquella Chavez Mary Fete Wenli Yu Tarek Hussein Ramsey Johnson Kenneth Huttner Andrew H Jheon Ophir D Klein

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis d...

Journal: :Journal of medical genetics 1977
K Fried

First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while th...

2006
Jacqueline Mok

Gross R E, Neuhauser E B D. Compression of the trachea by an anomalous innominate artery: an operation for its relief. Am J Dis Child 1948; 75: 570-4. 2 Fearon B, Shortreed R. Tracheobronchial compression by congenital cardiovascular anomalies in children. Syndrome of apnea. Ann Otol Rhinol Laryngol 1963; 72: 949-69. 3 Mustard W T, Bayliss C E, Fearon B, Pelton D, Trusler G A. Tracheal compress...

Journal: :Cell cycle 2007
Tuula Rinne Hans G Brunner Hans van Bokhoven

Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can...

Journal: :Czasopismo stomatologiczne 1985
B Perzyna H Anholcer W Stolzmann

Oligodontia, a form of hypodontia, is commonly seen in permanent than in deciduous dentition. It is defined as the congenital absence of six or more teeth, excluding third molars. It is relatively a rare condition which occurs as an isolated finding or as part of a syndrome. The present paper shows a rare case of oligodontia with ectodermal dysplasia in 2 siblings (boys). Both the cases were as...

2013
Rahab Ghoveizi Hakimeh Siadat Sakineh Nikzad Ghasem Ommati Shabestari Yadolah Soleimani Shayesteh

Full mouth rehabilitation in patients with ectodermal dysplasia (ED) is difficult to manage, especially because the afflicted individuals are quite young when they are evaluated for treatment; therefore, esthetics is an important concern. This clinical report describes the rehabilitation of a 19-year-old girl diagnosed with ectodermal dysplasia. Eleven implants were placed in the maxilla and ma...

2012
Shashi Bala M Nikhil Anshul Chugh Anjali Narwal

A 7-year-old male, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems. The treatment to improve his appearance and oral function included a removable prosthesis. The results were significant improvements in speech, masticatory function, and facial esthetics, contributing to the development of normal dietary habits, and the i...

Journal: :Medicina oral, patologia oral y cirugia bucal 2008
Adolfo Pipa Vallejo Elena López Arranz Monje Manuel González García Miguel Martínez Fernández Fernando Blanco Moreno Alvarez Buylla

Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse, fine and weak; anomalies in the skin and nails), hypohidrosis (due to the paucity of sweat glands which in turn gives rise to sweat disorders) and...

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