Results 11 to 20 of about 3,300 (225)
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
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
Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]
, 2011 Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N. +3 more
core +1 more source
Prosthetic rehabilitation of siblings with oligodontia and metal allergy
Fogorvosi Szemle, 2022 Oligodontia is a complex congenital deformity, as it includes the lack of permanent teeth, functional and psychosocial problems. The management of this deformity requires a multidisciplinary approach, that involves the work of an orthodontist ...
Kata Kelemen +2 more
doaj +1 more source
DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant. [PDF]
Case Rep PediatrBackground: Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by a constellation of symptoms, including alopecia, hypogonadism, diabetes, mental retardation, and extrapyramidal syndrome. Here, we present a case study of a girl with WSS, focusing on clinical features, genetic analysis, and treatment.
Khalili Dehkordi A, Vakili R.
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
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Journal of Oral Research, 2022 Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands.
Héctor Rodríguez +4 more
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Checklist of the Invertebrate Animals Reported from the Region of Port Aransas, Texas [PDF]
, 1960 This checklist is of preliminary form with the hope that this will be a beginning for a more complete annotated list of the fauna and flora of this region. In many cases this list is quite obviously incomplete, however further work on the taxonomy of
Trott, Lamarr B.
core +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