Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.

ABSTRACT:

Background

 Potential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence.

Materials and methods

 Children younger than 11 years who presented with PE to the outpatient clinic of the Department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively.

Resu

SUBMITTER: Billar R 

PROVIDER: S-EPMC11226330 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature