Results 11 to 20 of about 2,773 (156)

Famlial nonsyndromic oligodontia

Contemporary Clinical Dentistry, 2012
Oligodontia is one of the most common developmental abnormalities in humans. The present case report highlights the features of oligodontia in a 12-year-old male patient which was managed successfully with multidisciplinary approach. Familial oligodontia
Punithavathy, John B John, Geetha Priya, Indhumathi Elango, Stalin   +4 more
doaj   +2 more sources

Nonsyndromic oligodontia in siblings: A rare case report

Journal of Pharmacy and Bioallied Sciences, 2014
A syndrome is a medical condition that is characterized by a particular group of signs and symptoms, involving several organ systems. Oligodontia is defined as the developmental absence of six teeth or more, excluding third molars.
Veerabadhran Mahesh Mathian, Murugesan Gawthaman, Ramachandran Karunakaran, Selvaraj Vinodh, Sundaram Manikandan, Alagappan Meenakshi Sundaram   +5 more
doaj   +2 more sources

Familial non-syndromic oligodontia

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Oligodontia, a rare genetic disorder, represents the congenital absence of more than six teeth in primary, permanent, or both dentitions and is usually the feature of a syndrome. Its occurrence as an isolated entity is even rarer.
Seema Basoya, Sridevi Koduri, Ishita Gupta, Vinod Vijay Chandar   +3 more
doaj   +2 more sources

Hair Evaluation in Orthodontic Patients with Oligodontia

Diagnostics
Oligodontia can be isolated or syndromic, associated with other ectodermal abnormalities. The aim of the study was to perform hair examination in orthodontic patients diagnosed with oligodontia with a low clinical expression of symptoms of ectodermal ...
Małgorzata Zadurska, Adriana Rakowska, Ewa Czochrowska, Małgorzata Laskowska, Konrad Perkowski, Izabela Strużycka, Lidia Rudnicka, Agnieszka Jurek   +7 more
doaj   +2 more sources

X-Linked Anhidrotic Ectodermal Dysplasia in A 19-Year-Old Male: A Classic Phenotype. [PDF]

Clin Case Rep
ABSTRACT 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, Dahal A, Gupta P, Pudasaini P, Paudel U.   +4 more
europepmc   +2 more sources

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants. [PDF]

Exp Dermatol
ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Schneider H, Hadj-Rabia S, Berking C, Weider M, Steffann J, Rieker RJ, Gölz L, Peschel N.   +7 more
europepmc   +2 more sources

Intrafamilial Phenotypic Variability and Dental Management of Ectodermal Dysplasia in Three Siblings: A Case Report. [PDF]

Case Rep Dent
Ectodermal dysplasia (ED) is a heterogeneous group of inherited disorders affecting ectoderm‐derived structures, with dental anomalies representing a major clinical concern. This case report describes three siblings from a Tunisian family presenting marked intrafamilial phenotypic variability of ED.
Chouchene F, Masmoudi F, Baaziz A.
europepmc   +2 more sources

Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report. [PDF]

Case Rep Dent
Background Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclast function. Its clinical presentation varies according to subtype, and oral manifestations are frequent, potentially serving as early indicators of the disease.
Cruz-Morera MA, Molina-Chaves K, Gomez-Fernandez A.   +2 more
europepmc   +2 more sources

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype. [PDF]

Clin Genet
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Stephenson KAJ, Shao Z, Tumber A, Tavares E, Ahmed K, Higginbotham EJ, Marshall CR, Maynes JT, Rajala A, Rajala RVS, Héon E, Vincent A.   +11 more
europepmc   +2 more sources

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study. [PDF]

Oral Dis
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Montevecchi M, Liguori MG, Santini I, Sforza NM, Querzoli G, Valeriani L.   +5 more
europepmc   +2 more sources