hrp0098p3-281 | Late Breaking | ESPE2024

Cleidocranial dysplasia associated with gh deficiency by auxological criterion: case report

Fernando Arrais Ricardo , Luiza Assunção Dantas Ana , Queiroz Dias do Nascimento Letícia , Saraiva Santos Silva Marina

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...