title: Coronal clival cleft in CHARGE syndrome.
abstract: CHARGE syndrome is a genetic disorder with multi-systemic 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. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome. The presence of a coronal clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.
authors.affiliation: 1 Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC, USA.
authors.forename: Eman
authors.initials: E
authors.lastname: Mahdi
authors.affiliation: 1 Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC, USA.|2 George Washington University Hospital, Washington, DC, USA.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
mesh_terms: D058747:CHARGE Syndrome / Q000000981:diagnostic imaging*; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male
keywords: CHARGE syndrome; Cornelia de Lange syndrome (CdLS); clival cleft; coloboma; semicircular canal