CLEIDOCRANIAL DYSPLASIA: A CASE REPORT

Abstract

Cleidocranial Dysplasia is a rare autosomal dominant skeletal disease caused by mutation in the gene on 6p21 encoding transcription factor CBFAI, ie runt related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubicsymphysis and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a case of CCD in a 8?year old girl who was referred to our clinic because of failure to thrive and emphasize the importance of clinical findings in CCD.

Keywords: Cleidocranial Dysplasia, unclosed fontanelle, aplasia of clavicle