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J Clin Diagn Res. 2017 Mar;11(3):ZD14-ZD15. doi: 10.7860/JCDR/2017/24678.9477. Epub 2017 Mar 01.

Achondroplasia with Polydactyly: A Case Report.

Journal of clinical and diagnostic research : JCDR

Caroline Frank, Sameeya Shariff, Muddepalle Pavani, Balasubramanian Karthika, Sridhar Thathekalva

Affiliations

  1. Intern, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.
  2. Assistant Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.
  3. Associate Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.
  4. Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.

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

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.

Keywords: Delayed eruption; Dental caries; Short stature

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