title: A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma.
abstract: A 19-year-old woman was referred for nasal breathing and aesthetic concerns regarding her nose. A computed tomography scan revealed a massive osseous shield anterior to the piriform aperture. Furthermore, there was a submucosal median alveolar cleft, and the posterior arch of C1 was missing. The magnetic resonance imaging brain scan revealed a curvilinear lipoma of corpus callosum. The ectopic nasal bone was removed by open rhinoplast,y and nasal function and aesthetics were restored. The described features defy conventional clinical diagnosis and severity classifications and present a diagnostic conundrum somewhere between a mild form of frontonasal dysplasia, oculoauriculofrontonasal syndrome, and Pai syndrome.
authors.forename: Farzad
authors.initials: F
authors.lastname: Borumandi
authors.forename: Ambika
authors.initials: A
authors.lastname: Chadha
authors.forename: Emil
authors.initials: E
authors.lastname: Dediol
authors.forename: Vedran
authors.initials: V
authors.lastname: Uglešić
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000000981:diagnostic imaging; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008067:Lipoma / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009666:Nose / Q000002:abnormalities / Q000000981:diagnostic imaging; D010641:Phenotype; D014057:Tomography, X-Ray Computed
keywords: C1 posterior arch cleft; corpus callosum lipoma; frontonasal dysplasia; nasal ectopic bone; nasal ossification; oculoauriculofrontonasal syndrome