Disostosis cleidocraneal

Pediatric patient with cleidocranial dysostosis: case report and literature review

“…This condition is typified by congenital skeletal anomalies such as clavicular hypoplasia or aplasia, delayed cranial fontanelle closure, brachycephalic morphology, delayed dental deciduous dentition shedding, postponed eruption of permanent teeth, presence of multiple supernumerary teeth, and maxillary morphological aberrations. 2 Historically, its earliest documentation traces back to around 1765 with the inaugural report on clavicular aplasia, followed by Scheuthauer's comprehensive delineation of its clinical features in 1871 1. Subsequently, in 1898, Marie and Sainton coined the term "hereditary cleidocranial dysostosis.…”

“…1 In 1988, this syndrome was classified as skeletal dysplasia within the osteochondrodysplasia spectrum. 2 Further genetic elucidation by Ramesar in 1996 revealed a shared genetic lineage among 100 patients traced back to the Arnold case. 2 Etiologically, cleidocranial dysostosis is linked to the RUNX2 gene on chromosome 6, locus p21, belonging to the RUNX transcription factor family, which encodes the CBFA1 protein.…”

“…2 Etiologically, cleidocranial dysostosis is linked to the RUNX2 gene on chromosome 6, locus p21, belonging to the RUNX transcription factor family, which encodes the CBFA1 protein. 2 This protein's expression in oral tissues, notably the dental follicle mesenchyme, regulates growth and differentiation, crucial for epithelialmesenchymal interactions, morphogenesis control, and enamel epithelial organ histodifferentiation.3,4 Additionally, its expression in the periodontal ligament influences osteoclast differentiation, potentially contributing to observed delayed dental eruption in cleidocranial dysostosis. 2 Mundlos describes three putative pathobiological mechanisms of cleidocranial dysostosis: 1 1.…”

“…2 This protein's expression in oral tissues, notably the dental follicle mesenchyme, regulates growth and differentiation, crucial for epithelialmesenchymal interactions, morphogenesis control, and enamel epithelial organ histodifferentiation.3,4 Additionally, its expression in the periodontal ligament influences osteoclast differentiation, potentially contributing to observed delayed dental eruption in cleidocranial dysostosis. 2 Mundlos describes three putative pathobiological mechanisms of cleidocranial dysostosis: 1 1. Non-functional protein: Despite appropriate protein encoding, functional deficiency due to haploinsufficiency occurs.…”

Displasia cleidocraneana: caso clínico con hallazgos prenatales y seguimiento posnatal

“…La incidencia se estima en 1 por 200,000 nacidos vivos 5 . El patrón de herencia es autosómica dominante con expresividad variable, sin predilección de sexo 2,6,7 . En el 20-40% de los casos reportados, la condición ocurre esporádicamente 2 .…”