Telehealth Adoption and Perspectives Among Pediatric Otolaryngologists Following the COVID-19 Pandemic.

Objectives: To assess use of and physician experiences with pediatric otolaryngology telehealth visits as impacted by the COVID-19 pandemic.

Study Design/setting: Cross sectional survey.

Methods: A 15-question survey was electronically distributed to 656 members of the American Society of Pediatric Otolaryngology in August 2021, addressing member demographics, experiential practice elements, and use pre-pandemic, during the initial shutdown period of March-May 2020, and current use at the time of survey inquiry.

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome.

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.

We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.