Baccetti T, Defraia E, Donati M A
Department of Orthodontics, University of Florence, Italy.
J Clin Pediatr Dent. 1997 Winter;21(2):167-71.
Congenital Fiber-Type Disproportion myopathy (CFTD) is a relatively rare muscular disorder due to predominance and reduction in size of type 1 fibers, with large type 2 fibers. After a review of the clinical and histopathological aspects of the disease, the present work described craniofacial skeletal and EMG features of a 9-year-old child affected by CFTD. Narrow maxillary arch, incompetent lips, severe skeletal open bite, and EMG evidence of weakness of masticatory muscles, were found in the examined patient. All these findings are fully consistent with previously-reported craniofacial features of patients affected by myotonic disorders (muscular dystrophy), and they may represent important diagnostic signs of a congenital muscular disease.
先天性纤维类型比例失调性肌病（CFTD）是一种相对罕见的肌肉疾病，其特征为1型纤维占优势且尺寸减小，同时伴有粗大的2型纤维。在回顾了该疾病的临床和组织病理学特征后，本研究描述了一名9岁CFTD患儿的颅面骨骼和肌电图特征。在该患者中发现了上颌弓狭窄、唇部功能不全、严重的骨性开牙合以及咀嚼肌无力的肌电图证据。所有这些发现与先前报道的强直性疾病（肌营养不良）患者的颅面特征完全一致，它们可能是先天性肌肉疾病的重要诊断标志。
