title: Craniofacial and temporal bone CT findings in cleidocranial dysplasia.
abstract: Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients.
authors.affiliation: Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Guido E
authors.initials: GE
authors.lastname: Gonzalez
authors.forename: Paul A
authors.initials: PA
authors.lastname: Caruso
authors.forename: Juan E
authors.initials: JE
authors.lastname: Small
authors.forename: Robert W
authors.initials: RW
authors.lastname: Jyung
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Troulis
authors.forename: Hugh D
authors.initials: HD
authors.lastname: Curtin
mesh_terms: D002648:Child; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D013701:Temporal Bone / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed / Q000379:methods*