Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed.

Symptoms: Physical disability, intellectual disability, developmental disability [2] Usual onset: Present at birth [2] Types: Structural, functional [3] ... congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis. [17] Congenital heart defects include patent ductus arteriosus, atrial septal defect, ventricular ...

Study with Quizlet and memorise flashcards containing terms like Autosomal dominant malformation syndrome associated with mutation in RUNX2 (CBFA1) gene on chromosome 6p, What is the function of the RUNX2 gene?, Characteristics of someone with Cleidocranial Dysostosis: and others.

Which of the following disorders is only associated with the type of bone shown in the figure? bowed legs and pelvic deformities (rickets) excessive and random bone deposition (Paget's disease) lack of formation of certain skull bones and the clavicle (cleidocranial dysostosis) weakening of the bones through failure in deposition/absorption ...

The symptoms may include the abnormal forehead, height often shorter than average, wide set of eyes, abnormal teeth and flat nose. Apart from these symptoms the intelligence is typically seen normal. The initial diagnosis of this disease is often done by physical examination and X-rays of the head, chest and hands.