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  • Title: [RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION].
    Author: Yang J, He L.
    Journal: Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi; 2015 Nov; 29(11):1434-40. PubMed ID: 26875281.
    Abstract:
    OBJECTIVE: To summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. METHODS: The related literature at home and abroad concerning the Klippel-Feil syndrome with ear malformation was reviewed, analyzed, and summarized. RESULTS: The clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance. However, it is still unclear exactly how the ear deformity forms in Klippel-Feil syndrome, and there is little deep study on the internal connection between the ear deformity and other malformations. The premise for the treatment of Klippel-Feil syndrome includes accurate diagnoses and comprehensive disease assessment, and multidisciplinary collaboration will be the important direction of clinical practice in the future. CONCLUSION: Ear malformation is one of the most important congenital dysplasias in the Klippel-Feil syndrome. Its etiology should be based on research in the development and genetic mechanism. And its diagnosis and treatment should be followed by multidisciplinary collaboration. It is important to pay attention to identifying with ear malformation in other syndromes as well.
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