title: Dental Anomalies Associated with Craniometaphyseal Dysplasia.
abstract: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous Ank (KI/KI) mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank (+/+) mice (p < .05). Histological analysis of molars in Ank (KI/KI) mice revealed decreased numbers of TRAP(+) osteoclasts on the bone surface of pressure sides. Based on these findings, recommendations for the dental treatment of patients with CMD are provided.
authors.affiliation: Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.
authors.forename: I-P
authors.initials: IP
authors.lastname: Chen
authors.affiliation: Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.
authors.forename: A
authors.initials: A
authors.lastname: Tadinada
authors.affiliation: Department of Craniofacial Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.
authors.forename: E H
authors.initials: EH
authors.lastname: Dutra
authors.affiliation: Department of Craniofacial Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.
authors.forename: A
authors.initials: A
authors.lastname: Utreja
authors.affiliation: Department of Craniofacial Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.
authors.forename: F
authors.initials: F
authors.lastname: Uribe
authors.affiliation: Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut Health Center, Farmington, CT, USA reichenberger@uchc.edu.
authors.forename: E J
authors.initials: EJ
authors.lastname: Reichenberger
mesh_terms: D000135:Acid Phosphatase / Q000032:analysis; D000818:Animals; D015519:Bone Density / Q000502:physiology; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002508:Cephalometry / Q000379:methods; D054893:Cone-Beam Computed Tomography / Q000379:methods; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D004195:Disease Models, Animal; D055879:Gene Knock-In Techniques; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006972:Hypertelorism / Q000000981:diagnostic imaging / Q000235:genetics*; D007527:Isoenzymes / Q000032:analysis; D008334:Mandible / Q000000981:diagnostic imaging; D008437:Maxilla / Q000000981:diagnostic imaging; D051379:Mice; D009154:Mutation / Q000235:genetics; D010010:Osteoclasts / Q000473:pathology; D010649:Phenylalanine / Q000235:genetics; D028061:Phosphate Transport Proteins / Q000235:genetics; D017384:Sequence Deletion; D019291:Skull Base / Q000000981:diagnostic imaging; D000071681:Tartrate-Resistant Acid Phosphatase; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D014087:Tooth Movement Techniques / Q000379:methods; D014716:Vertical Dimension; D055114:X-Ray Microtomography / Q000379:methods
chemical_list: D007527:Isoenzymes; D028061:Phosphate Transport Proteins; C410982:ank protein, mouse; D010649:Phenylalanine; D000135:Acid Phosphatase; C000605511:Acp5 protein, mouse; D000071681:Tartrate-Resistant Acid Phosphatase
keywords: ANKH; cone-beam computed tomography; craniofacial abnormalities; mouse model; orthodontics; tooth eruption