Disostosis cleidocranealentidad poco conocida con expresividad variable
- S. Galbis Soto
- Maria Pilar Bahíllo Curieses
- M.C. Mombiedro Arizmendi
- S. Rellán Rodríguez
- V. Matías
- María José Martínez Sopena
ISSN: 0001-6640
Année de publication: 2016
Volumen: 74
Número: 7
Pages: 167-174
Type: Article
D'autres publications dans: Acta pediátrica española
Résumé
Introduction: Cleidocraneal dysostosis is a rare autosomal dominant skeletal dysplasia in which the clavicles are typically affected. Mutations of the CBFA1/RUNX2 genes cause this disease. Objective: Report of two familial cases of cleidocranial dysostosis with different clinical expressivity. Methods: A clinical and radiographic study of two individuals with cleidocranial dysostosis in the same family is described. Results: Aplasia or hypoplasia of the clavicles was present in both patients, who also showed lack of fusion of the symphysis pubis and the posterior arches of different cervical, thoracic and lumbar vertebrae. Both individuals presented dysmorphic facial features including broad forehead, hypertelorism and strabismus. Conclusions: The diagnosis of cleidocranial dysostosis was based on clinical and radiographic findings and can be confirmed by genetic analysis. It is important to study the whole family to search for more affected individuals.