Golan, Ilan and Baumert, U. and Hrala, B. P. and Schaurnburger, J. and Wiech, O. and Grifka, Joachim and Muessig, D. (2003) Symptoms and signs in cleidocranial dysplasia (CCD). ZEITSCHRIFT FUR ORTHOPADIE UND IHRE GRENZGEBIETE, 141 (3). pp. 336-340. ISSN 0044-3220
Full text not available from this repository. (Request a copy)Abstract
Aim: Occurrence of main symptoms and the rate of spontaneous mutations in patients with cleidocranial dysplasia. Method: 24 patients with variable phenotypic expression of CCD were examined symptomatically. The main focus was placed on findings in the shoulder girdle, craniofacial symptoms and alterations in radiologic opacity. Results: The average age of the patients was 18.3 years. In our patient cohort, 58,3% were spontaneous mutations. Abnormal apposition of the shoulders were found in 88% of the patients. Craniofacial symptoms were diagnosed in 88%. An increase of the radiologic skull density was apparent in 95%. Conclusion: The expression of this rare disorder is variable and its symptomatology not always apparent. Spontaneous mutations occur frequently. Due to the high prevalence of the considered symptoms, the diagnosing physician should focus on the facial appearance and shoulder abnormalities. In cases of ambiguous findings we recommend a consultation of an experienced clinician as well as genetic counseling.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | FRAMESHIFT MUTATION; CBFA1; GENE; BINDING; FAMILY; CBFA1/RUNX2-gene; clavicles; craniofacial expression; ossification; shoulder girdle defect |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kieferorthopädie Medicine > Lehrstuhl für Mund-, Kiefer- und Gesichtschirurgie Medicine > Lehrstuhl für Orthopädie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Sep 2021 05:37 |
| Last Modified: | 15 Sep 2021 05:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/39110 |
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