Golan, Ilan and Waldeck, A. and Baumert, U. and Strutz, Juergen and Mueßig, D. (2004) Anomalies of the skull-in cleidocranial dysplasia. An otorhinolaryngological and craniofacial radiological study. HNO, 52 (12). pp. 1061-1066. ISSN 0017-6192, 1433-0458
Full text not available from this repository. (Request a copy)Abstract
Background. The description of the otorhinolaryngeal and craniofacial anomalies in patients with cleidocranial dysplasia. Methods. For this study, 26 patients with cleidocranial dysplasia Were examined after their medical history had been recorded. The main focus was placed on otorhinolaryngological and orthodontic findings. Results. The portion of spontaneous mutations in our patient population was 46.19& All patients exhibited otorhinolaryngological and craniofacial anomalies. While single ENT-anomalies were expressed in 76.9%-92.3% of the patients, the craniofacial findings were distributed over 84.6%-92.3% Conclusion. The expression of this rare disorder is variable and its symptomatology not always distinct. Otorhinolaryngological and craniofacial anomalies are often apparent Appropriate treatment can significantly contribute to an improvement in the patient's quality of life. In cases of ambiguous findings, we recommend consultation with an experienced clinician as well as genetic counselling.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | FRAMESHIFT MUTATION; TEMPORAL BONE; PETROUS BONE; TRANSCRIPTION; JAPANESE; GENE; MRI; CT; DYSOSTOSIS; BINDING; craniofacial ossification distubance; inhibition of pneumatization; supermumerary teeth; wormian bones |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde Medicine > Lehrstuhl für Kieferorthopädie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 21 Jun 2021 09:47 |
| Last Modified: | 21 Jun 2021 09:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36897 |
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