Results 71 to 80 of about 8,789 (185)

Isolated recessive nail dysplasia caused by FZD6 mutations:report of three families and review of the literature [PDF]

, 2016
Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails.
Betz, R. C., Bosse, K., Cole, C., Hansen, C. D., Kasparis, C., Khan, M., Okur, V., Reid, D., Smith, F. J. D., Wilson, N. J.   +9 more
core   +1 more source

Dental Implants in Adults With Intellectual Disabilities: A Multicenter Retrospective Study. Part 1: Implant Outcomes

Journal of Oral Rehabilitation, EarlyView.
This multicenter retrospective study evaluated implant survival and peri‐implant health in adults with non‐syndromic intellectual disability. Among 453 implants with long‐term follow‐up, survival exceeded 92%, with tissue‐level implants and cement‐retained restorations associated with healthier peri‐implant conditions. These findings support the use of
Márcio Diniz‐Freitas, Manuel Bratos‐Bobo, Manuel Bratos‐Morillo, Denise Faulks, Marie‐Sophie Bogner, Melanie Derchu, Caroline Eschevins, Emmanuel Nicolas, Pierre Yves Cousson, Chantal Auduc, Yoo Soo‐Yeon, Pedro Diz‐Dios, Pablo Gasamáns‐García, Jacobo Limeres‐Posse, Paolo Appendino, Simone Buttiglieri, Francesco Della Ferrera, Roberto Rozza, Fabio Brusamolino, Javier Fernández‐Feijoo   +19 more
wiley   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

The Hay Wells Syndrome-Derived TAp63aQ540L Mutant has Impaired Transcriptional and Cell Growth Regulatory Activity [PDF]

, 2006
p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC ...
CALABRO', VIOLA, Calogero, R. A., Crispi, S., Di Costanzo, A., LA MANTIA, GIROLAMA, Lo Iacono, M., Mansueto, G., POLLICE, ALESSANDRA, Saviozzi, S.   +8 more
core   +1 more source

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, EarlyView.
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.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review

Orphanet Journal of Rare Diseases, 2022
Objective The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón, Antonio José Ortiz-Ruiz   +6 more
doaj   +1 more source

NEMO‐NDAS: Case Report and Review of the Literature

Pediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam   +5 more
wiley   +1 more source

Hereditary ectodermal dysplasia: Report of 11 patients from a family

Indian Journal of Dental Research, 2013
Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs) in 11 individuals over two generations in one family.
Seema Vaidya, Mukund Risbud, Avinash Kshar, Praveenkumar Ramdurg   +3 more
doaj   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Rare and Common Variants Conferring Risk of Tooth Agenesis [PDF]

, 2018
We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We
Alonso, I. (I.), Audolfsson, G. (G.), Bjornsdottir, G. (G.), Dhamo, B. (Brunilda), Feenstra, B. (Bjarke), Geller, F. (Frank), Gudbjartsson, D.F. (Daniel), Gudmundsson, L. (Larus), Gustafsson, O. (Omar), Howe, B.J. (B. J.), Ingason, A. (A.), Jonsson, L. (L.), Jonsson, R. (R.), Jonsson, T. (Thorvaldur), Leslie, E.J. (Elizabeth J.), Magnusson, T.E. (T. E.), Marazita, M.L. (Mary), Melbye, M. (Mads), Moreno Uribe, L.M. (L. M.), Nawaz, M.S. (M. S.), Nohr, C. (Christian), Oddsson, A. (A.), Olafsson, S. (S.), Ongkosuwito, E.M. (Edwin), Pinho, T. (T.), Rivadeneira, F. (F.), Santos, M. (M.), Stefansson, H. (Hreinn), Stefansson, K. (K.), Steinberg, S. (Stacy), Thordarson, A. (A.), Unnsteinsdottir, U. (U.), Vučić, S. (Strahinja), Walters, G.B. (Bragi), Wolvius, E.B. (Eppo), Zervas, M. (M.)   +35 more
core   +2 more sources