Literature DB >> 28511523

Achondroplasia with Polydactyly: A Case Report.

Caroline Frank1, Sameeya Shariff1, Muddepalle Pavani2, Balasubramanian Karthika3, Sridhar Thathekalva4.   

Abstract

An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies. This case gained dental interest because of its characteristic craniofacial features. This article highlights the peculiar manifestations of this anamoly.

Entities:  

Keywords:  Delayed eruption; Dental caries; Short stature

Year:  2017        PMID: 28511523      PMCID: PMC5427449          DOI: 10.7860/JCDR/2017/24678.9477

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  7 in total

1.  Oral findings in a typical case of achondroplasia.

Authors:  P Celenk; S Arici; C Celenk
Journal:  J Int Med Res       Date:  2003 May-Jun       Impact factor: 1.671

Review 2.  Polydactyly: how many disorders and how many genes? 2010 update.

Authors:  Leslie G Biesecker
Journal:  Dev Dyn       Date:  2011-03-28       Impact factor: 3.780

Review 3.  Medical complications of achondroplasia: a multicentre patient review.

Authors:  A G Hunter; A Bankier; J G Rogers; D Sillence; C I Scott
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  Achondroplasia: Craniofacial manifestations and considerations in dental management.

Authors:  Afnan Al-Saleem; Asma Al-Jobair
Journal:  Saudi Dent J       Date:  2010-07-14

5.  Achondroplasia and periodontal disease.

Authors:  Kirti Chawla; Arundeep Kaur Lamba; Farrukh Faraz; Shruti Tandon
Journal:  J Indian Soc Periodontol       Date:  2012-01

Review 6.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24

7.  Orofacial manifestations of achondroplasia.

Authors:  Smriti Rohilla; Atul Kaushik; V C Vinod; Renu Tanwar; Munish Kumar
Journal:  EXCLI J       Date:  2012-08-27       Impact factor: 4.068

  7 in total

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