Literature DB >> 28706789

Craniometaphyseal Dysplasia: A review and novel oral manifestation.

K Martin1, S Nathwani1, R Bunyan1.   

Abstract

Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans. This novel finding can aid the clinician in the management of patients with Craniometaphyseal Dysplasia, and complications that can arise in dentoalveolar surgery.

Entities:  

Keywords:  Craniometaphyseal Dysplasia; Hypercementosis; Sclerosing Osseous Dysplasia

Year:  2017        PMID: 28706789      PMCID: PMC5497386          DOI: 10.1016/j.jobcr.2017.04.007

Source DB:  PubMed          Journal:  J Oral Biol Craniofac Res        ISSN: 2212-4268


  14 in total

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Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

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Authors:  Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A Radecki; Sukwha Kim; Hakon Hakonarson; Hyun-Duck Nah
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

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Journal:  J Pediatr       Date:  1988-04       Impact factor: 4.406

7.  The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

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Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

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Journal:  Science       Date:  2000-07-14       Impact factor: 47.728

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Journal:  Clin Genet       Date:  1979-03       Impact factor: 4.438

10.  Structure and mechanical properties of Ank/Ank mutant mouse dental tissues--an animal model for studying periodontal regeneration.

Authors:  H Fong; B L Foster; M Sarikaya; M J Somerman
Journal:  Arch Oral Biol       Date:  2009-03-31       Impact factor: 2.633

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  2 in total

Review 1.  Human Genetics of Sclerosing Bone Disorders.

Authors:  Raphaël De Ridder; Eveline Boudin; Geert Mortier; Wim Van Hul
Journal:  Curr Osteoporos Rep       Date:  2018-06       Impact factor: 5.096

2.  Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children.

Authors:  Jiali Wu; Xiaoli Li; Shumei Chen
Journal:  J Int Med Res       Date:  2022-07       Impact factor: 1.573

  2 in total

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