Purpose or Case Report: CHARGE syndrome is a genetic disorder with multisystemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study is to assess the prevalence of coronal clival clefts in patients with CHARGE syndrome.
Methods & Materials: In this retrospective study, the CT/MRI database at a single academic children’s hospital was queried for the phrase “CHARGE syndrome” over a 17-year period (2001-2017). Electronic medical records were reviewed to confirm the diagnosis. Images were assessed for skull base anomalies, specifically clival hypoplasia and dysplasia.
Results: The search yielded 42 exams (21 CTs and 21 MRIs) from 15 distinct patients (mean ages 4.1 ± 5.6 years; range 2 days to 19 years). Diagnosis of CHARGE syndrome was confirmed either by clinical and genetic testing (n=6) or by clinical diagnosis only (n=9). A coronal clival cleft was identified in 87% of patients (n=13; 37 exams), either partial (53%) or complete (33%). Clival hypoplasia without clefting was present in all 5 exams from the remaining 2 patients.
Conclusions: Clival pathology is universal in CHARGE syndrome. Coronal clival clefts are extremely common, representing a useful diagnostic feature. Detection of a clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.