title: Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.
abstract: Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline HRAS mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two-thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with Costello syndrome. In this study, images reconstructed by multi-detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in Costello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly/intellectual disability syndromes.
authors.affiliation: Department of Pediatric Dentistry, Nihon University Graduate School of Dentistry at Matsudo, Matsudo, Chiba, Japan. matakahashidentist@yahoo.co.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Takahashi
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
mesh_terms: D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000473:pathology; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D056685:Costello Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000473:pathology; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D061330:Multidetector Computed Tomography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology