Results 21 to 30 of about 8,171 (177)
Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia
Case Reports in Ophthalmological Medicine, 2015 We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for ...
Xiaoyun Zhang +4 more
doaj +1 more source
Multidisciplinary Rehabilitation of Ectodermal Dysplasia: A Case Report
Orthodontic Journal of Nepal, 2016 This case report describes a joint multidisciplinary approach of restoring function and esthetics in an 18-year-young female with ectodermal dysplasia.
Alka Gupta +3 more
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Indian Journal of Plastic Surgery, 2010 Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
doaj +3 more sources
Pemakaian Gigi Tiruan Sebagian Pada Penderita Ektodermal Displasia dengan Anondonsia Parsial
Journal of Dentistry Indonesia, 2015 Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structure and their accessory appendeges. The main feature is hypohidrosis, hypotrichosis and hypodontia.
Rastia Indriyati +2 more
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Prosthodontic management of children with ectodermal dysplasia: A literature review
Saudi Dental Journal, 2019 Introduction: Ectodermal dysplasia (ED) is a large group of heterogeneous heritable conditions characterized by congenital defects of two or more ectodermal structures and their appendages.
Abdulaziz. A. Alowairdhi
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Allergy, Asthma & Clinical Immunology, 2021 X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi +11 more
doaj +1 more source
Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report
Journal of International Medical Research, 2021 Background Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other ...
Qintian Zhu +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Hypohidrotic ectodermal dysplasia
Dermatology Online Journal, 2008 We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire +4 more sources
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source