Literature DB >> 23074552

Cleidocranial dysplasia: a rare cause of disproportionate severe short stature.

Manzoor Ahmad Bhat1, Bashir Ahmad Laway, Suhail Mantoo, Khalid Choudry, Suman Kotwal, Shahnaz Ahmad Mir.   

Abstract

Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiary care hospital. Clinical examination revealed severe disproportionate short stature and classical triad of multiple supernumerary teeth, and complete absence of clavicles and open sagittal sutures and fontanelles. Skeletal survey confirmed these findings, in addition to other features associated with the syndrome.

Entities:  

Keywords:  Cleidocranial dysplasia; Short stature; Skeletal dysplasia

Year:  2012        PMID: 23074552      PMCID: PMC3472580          DOI: 10.5001/omj.2012.99

Source DB:  PubMed          Journal:  Oman Med J        ISSN: 1999-768X


  16 in total

1.  Cleidocranial dysostosis.

Authors:  E J LEVIN; H SONNENSCHEIN
Journal:  N Y State J Med       Date:  1963-05-15

2.  Somatic development in cleidocranial dysplasia.

Authors:  B L Jensen
Journal:  Am J Med Genet       Date:  1990-01

3.  Cleidocranial dysplasia and syringomyelia. Case report.

Authors:  R Vari; A Puca; M Meglio
Journal:  J Neurosurg Sci       Date:  1996-06       Impact factor: 2.279

4.  CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Authors:  G Zhou; Y Chen; L Zhou; K Thirunavukkarasu; J Hecht; D Chitayat; B D Gelb; S Pirinen; S A Berry; C R Greenberg; G Karsenty; B Lee
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

Review 5.  Cleidocranial dysplasia: clinical and molecular genetics.

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

6.  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

7.  RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Authors:  Yalin Li; Wei Pan; Wanfeng Xu; Nan He; Xuewu Chen; Hong Liu; L Darryl Quarles; Honghao Zhou; Zhousheng Xiao
Journal:  Mutagenesis       Date:  2009-06-10       Impact factor: 3.000

8.  Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

Authors:  Taketoshi Yoshida; Hirokazu Kanegane; Motomi Osato; Masatoshi Yanagida; Toshio Miyawaki; Yoshiaki Ito; Katsuya Shigesada
Journal:  Am J Hum Genet       Date:  2002-08-26       Impact factor: 11.025

9.  Cleidocranial dysplasia: a case report.

Authors:  Gülay Karagüzel; Filiz Azar Aktürk; Emelgül Okur; Halit Reşit Gümele; Yusuf Gedik; Ayşenur Okten
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-08-09

10.  Clinical spectrum of cleidocranial dysplasia: a case report.

Authors:  Rajeev Kumar Garg; Prachi Agrawal
Journal:  Cases J       Date:  2008-12-08
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  1 in total

1.  Cleidocranial Dysplasia in a 10-year-old Child: A Case Report.

Authors:  Chamarthi Vishnurekha; Dhanraj Kalaivanan; Santham Krishnamoorthy; Shanthipriya Manoharan; Vijayaprabha Kalyanaraman; Sobiha Selvaraj
Journal:  Int J Clin Pediatr Dent       Date:  2019 Jul-Aug
  1 in total

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