Clival Malformations in CHARGE Syndrome.

ABSTRACT:

Background and purpose

CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome.

Materials and methods

In this retrospective study, the CT/MR imaging data base at a single academic children's hospital was queried for the phrase "CHARGE syndrome" during a 17-year period (2001-2017). Electronic medical records were reviewe

SUBMITTER: Mahdi ES 

PROVIDER: S-EPMC7410616 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature