Abstract 146: Cleidocranial dysplasia: A rare cause of severe short stature

Abstract

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to Runx 2 mutation with 1:1,000,000 incidence, characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature.Aims and Objectives: We report a case of 11year old boy presenting with short stature and classical features of cleidocranial dysplasia.Results: A 11 year boy with poor height gain since 2 years of age, was found to have severe disproportionate short stature with deciduous teeth, supernumerary teeth, midfacial hypoplasia, flattened nasal bridge, hypertelorism, high arched palate, short thumbs, clinodactyly and anterior apposition of shoulders. Skeletal survey confirmed these findings, along with Brachycephaly with open fontanelles, clavicular hypoplasia, bell shaped thorax, hypoplasia of the pelvis with widened symphysis pubis, coxa vara, pseudoepiphysis of 2nd metacarpal and severe dental anomalies.Conclusion: A thorough history and examination with radiological support will help in timely diagnosis of CCD in children and adequate treatment.