Craniofacial abnormalities associated with congenital fiber type disproportion myopathy.

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.