Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.

cleft lip and palate craniosynostosis genetics syndrome

Journal

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
ISSN: 1545-1569
Titre abrégé: Cleft Palate Craniofac J
Pays: United States
ID NLM: 9102566

Informations de publication

Date de publication:
18 Aug 2024
Historique:
medline: 19 8 2024
pubmed: 19 8 2024
entrez: 19 8 2024
Statut: aheadofprint

Résumé

To develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions. An online collaborative consisting of online meetings, independent work, and feedback across groups. Collaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback. The collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis. Timely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.

Identifiants

pubmed: 39155612
doi: 10.1177/10556656241276857
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

10556656241276857

Déclaration de conflit d'intérêts

Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Auteurs

Emily R Gallagher (ER)

Seattle Children's Hospital, Seattle, WA, USA.

Penny Chow (P)

Seattle Children's Hospital, Seattle, WA, USA.

Maria R Mills (MR)

Seattle Children's Hospital, Seattle, WA, USA.

Hazel Perry (H)

University of California San Francisco, San Francisco, CA, USA.

Allison C Tam (AC)

University of California San Francisco, San Francisco, CA, USA.

Glenn Rosenbluth (G)

University of California San Francisco, San Francisco, CA, USA.

Marisa Matthews (M)

University of California Los Angeles, Los Angeles, CA, USA.

Jessica Kianmahd Shamshoni (JK)

University of California Los Angeles, Los Angeles, CA, USA.

Daniela N Schweitzer (DN)

University of California Los Angeles, Los Angeles, CA, USA.

Yvonne R Gutierrez (YR)

Children's Hospital of Los Angeles, Los Angeles, CA, USA.

Anne Hing (A)

Seattle Children's Hospital, Seattle, WA, USA.

Classifications MeSH