title: Delayed diagnosis of cleidocranial dysplasia in an adult: a case report.
abstract: OBJECTIVE
  To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis.
  
  
  METHODS
  We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination.
  
  
  CONCLUSIONS
  Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.
authors.affiliation: Department of Neurosurgery, Mengucekgazi Training and Research Hospital, Erzincan University, Erzincan, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Gömleksiz
authors.affiliation: Department of Neurosurgery, Giresun University, School of Medicine, Mumcular Sok. N: 1/1, Merkez PC: 28100 Giresun, Turkey. arserhan@gmail.com.
authors.forename: Erhan
authors.initials: E
authors.lastname: Arslan
authors.affiliation: Department of Otorhinolaryngology, Kanuni Training and Research Hospital, Trabzon, Turkey.
authors.forename: Selçuk
authors.initials: S
authors.lastname: Arslan
authors.affiliation: Department of Neurosurgery, Gülhane Military Medical Academy, Ankara, Turkey.
authors.forename: Serhat
authors.initials: S
authors.lastname: Pusat
authors.affiliation: Department of Pediatric Neurology, Hacettepe University, School of Medicine, Ankara, Turkey.
authors.forename: Elif Acar
authors.initials: EA
authors.lastname: Arslan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002968:Clavicle / Q000002:abnormalities / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000150:complications / Q000000981:diagnostic imaging*; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D004417:Dyspnea / Q000150:complications; D005221:Fatigue / Q000150:complications; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed / Q000379:methods; D014071:Tooth Abnormalities / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D055815:Young Adult