Case Report

Cleidocranial dysplasia: Radiological mimic of pyknodysostosis – A case report

Harmeet Kaur, Kamini Gupta, Punit Tiwari
South African Journal of Radiology | Vol 22, No 1 | a1326 | DOI: https://doi.org/10.4102/sajr.v22i1.1326 | © 2018 Harmeet Kaur, KAMINI GUPTA, PUNIT . | This work is licensed under CC Attribution 4.0
Submitted: 20 February 2018 | Published: 14 June 2018

About the author(s)

Harmeet Kaur, Department of Radiodiagnosis, Dayanand Medical College & Hospital, India
Kamini Gupta, Department of Radiodiagnosis, Dayanand Medical College & Hospital, India
Punit Tiwari, Department of Orthopedics, Government Medical College, India


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Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder with predominant membranous bone involvement. It may also occur as a sporadic mutation. The diagnosis of this condition is based on the clinical, radiological and genetic findings. It is characterised by hypoplasia or aplasia of the lateral thirds of the clavicles; craniofacial and dental anomalies; and hypoplastic iliac bones. Pyknodysostosis is a close radiological mimic of this entity. Definite diagnosis is based on the genetic analysis. A 36-year-old short-statured female was referred for computed tomography of the paranasal regions for complaints of a deviated nasal septum and midline depression in her forehead. Skeletal screening demonstrated an open metopic suture, wormian bones, maxillary hypoplasia, maldentition and aplastic lateral thirds of both clavicles. In this article, we report a case of CCD, discuss various overlapping features between CCD and pyknodysostosis and attempt to differentiate them radiologically.


Keywords

Cleidocranial dysplasia; skeletal disorder; membranous bone; pyknodysostosis & craniofacial anomalies

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