Literature DB >> 22878985

A rare presentation of cleidocranial dysplasia.

Ilse Broeks1, Irma E Veenstra-Knol, Arvid W A Kamps.   

Abstract

Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia characterised by a defect in ossification. Frequently reported clinical findings are delayed closure of the fontanelles and cranial sutures, hypoplastic clavicles, dental abnormalities and short stature. Our patient suffered from complete absence of ossification of both parietal bones. This is a rare and severe defect that has been reported in only a few patients with CCD.

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Year:  2012        PMID: 22878985      PMCID: PMC4542816          DOI: 10.1136/bcr-03-2012-6101

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

1.  Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.

Authors:  Bruno Miguel Cardoso; Juliette Dupont; Susana Castanhinha; Margarida Ejarque-Albuquerque; Sónia Pereira; Gabriel Miltenberger-Miltenyi; Graça Oliveira
Journal:  Clin Dysmorphol       Date:  2010-07       Impact factor: 0.816

Review 2.  Cleidocranial dysplasia: clinical and molecular genetics.

Authors:  S Mundlos
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

3.  A natural history of cleidocranial dysplasia.

Authors:  S C Cooper; C M Flaitz; D A Johnston; B Lee; J T Hecht
Journal:  Am J Med Genet       Date:  2001-11-15

Review 4.  Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Authors:  Michael L Cunningham; Marianne L Seto; Anne V Hing; Marilyn J Bull; Robert J Hopkin; Kathleen A Leppig
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2006-02
  4 in total
  2 in total

1.  A rare case of cleidocranial dysplasia presenting with failure to thrive.

Authors:  Parag Suresh Mahajan; Anuradha Parag Mahajan; Prashant Suresh Mahajan
Journal:  J Nat Sci Biol Med       Date:  2015 Jan-Jun

Review 2.  Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.

Authors:  A Impellizzeri; G Midulla; U Romeo; C La Monaca; E Barbato; G Galluccio
Journal:  Int J Dent       Date:  2018-07-04
  2 in total

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