Results 11 to 20 of about 1,605 (178)
Clinical Case ReportsHypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands.
Nazera Ahmadzai +5 more
doaj +2 more sources
X-Linked Anhidrotic Ectodermal Dysplasia in A 19-Year-Old Male: A Classic Phenotype. [PDF]
Clin Case RepABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Chapagain L +4 more
europepmc +2 more sources
Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis. [PDF]
Orthod Craniofac ResABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
Becerril Santos MC +3 more
europepmc +2 more sources
De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations. [PDF]
J Gene MedWe report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Chen J, Xi X, Xu X, Lin Y.
europepmc +2 more sources
Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchEctodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped ...
Yashshwini Shroff +3 more
doaj +1 more source
Full Mouth Rehabilitation of an Adolescent Patient with Ectodermal Dysplasia: A Case Report [PDF]
Journal of South Asian Association of Pediatric Dentistry, 2022 Ectodermal dysplasia comprises genetic disorders of divergent groups that include dystrophies of ectodermally derived structures and their accessory structures, including hair, glands, teeth, skin, and nails.
Amith Adyanthaya +5 more
doaj +1 more source
NUMERIC DENTAL ANOMALIES IN CHILDREN FROM CLUJ-NAPOCA [PDF]
Romanian Journal of Stomatology, 2018 Numeric tooth anomalies involving a fewer number of teeth (hypodontia) are considered dental dystrophies determined by disturbances during the odontogenesis stage.
Viorica Ţărmure +8 more
doaj +1 more source
Journal of Applied Oral Science, 2013 Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9.
Jing WANG +12 more
doaj +1 more source
Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
doaj +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2012 Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat.
M Naveen Kumar +5 more
doaj +1 more source