Bilateral clavicular hypoplasia and cleidocranial dysplasia: Case report

Abstract

Clavicular hypoplasia or agenesis is common in patients with cleidocranial dysplasia (CCD). CCD is an uncommon congenital pathology with an autosomal dominant pattern affecting males and females equally. CCD presents with wide phenotypic variability, but there is no stable link between the genotype and phenotype. In addition to clavicular hypoplasia/agenesis, such patients present with thoracic deformities, iliac hypoplasia, cranial bone deformities, and delayed dentition. An early diagnosis is important to determine treatment options. However, there is no specific orthopedic treatment for this disease.