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
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
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
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
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
口腔疾病防治, 2022 Objective To detect WNT10A gene mutations in patients with oligodontia or anodontia (≥6 teeth missing) and analyze their dental phenotype. Methods Patients with oligodontia or anodontia were enrolled from the clinic for oral examination, genetic history ...
JIANG Xinke +4 more
doaj +1 more source
Prevalence and Patterns of Five Dental Anomalies in Athletes in Qatar: A Panoramic Radiographic Study. [PDF]
Int J DentObjective This study investigated the prevalence of dental anomalies within the athlete population in Qatar using panoramic radiographs. Design This retrospective, cross‐sectional study was conducted at Aspetar Hospital in Qatar. Materials and Methods Digital panoramic radiographs of 5000 records of athletes attending dental department were ...
Hashem A +5 more
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
The association between Ponticulus Posticus and Dental Agenesis: a retrospective study [PDF]
, 2018 OBJECTIVE: Neural tube defects may increase the risk of an abnormal development of skull, vertebral column and teeth formation, including dental agenesis in non syndromic patients. The association between the presence of a congenital Dental Agenesis (DA)
Barbato, Ersilia +3 more
core +1 more source