[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

ABSTRACT: Objective:To explore the clinical diagnosis, otological treatment and molecular etiology in a rare syndromic hearing loss case characterized by mandibulofacial dysostosis with microcephaly（MFDM）. Methods: The proband underwent detailed history collection, systematic physical examination and phenotypic analysis, as well as audiological examination, chest X-ray, temporal bone CT and brain MRI and other imaging examinations. The blood DNA of the proband and his parents was extracted and tested by the whole exom sequencing. The EFTUD2-related-MFDM literatures published by the end of 2020 were searched and sifted in PubMed and CNKI databases,the clinical characteristics of MFDM were summarized. Results:In this study, the patient presented with hypoplasia of auricle, microgn

SUBMITTER: Li X 

PROVIDER: S-EPMC10128212 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature