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[Cleidocranial dysostosis. Presentation of a case]
C H Castaño1, F J Jori, J C Quintero
1Servicio de Radiodiagnóstico, Ciudad Sanitaria y Universitaria de Bellvitge, L'Hospitalet de Llobregat, Barcelona, España.
Revista De Neurologia
|December 22, 1998
Summary
Cleidocranial dysostosis is a rare genetic disorder affecting bone development, characterized by clavicular aplasia and delayed skull ossification. This case highlights its varied presentation and diagnostic challenges in a young adult.
Area of Science:
- Genetics
- Orthopedics
- Radiology
Background:
- Cleidocranial dysostosis (CCD) is an autosomal dominant disorder.
- Key features include clavicular aplasia, delayed cranial ossification, and dental anomalies.
- The condition exhibits significant polymorphism, necessitating comprehensive diagnostic evaluation.