Brief Clinical StudiesCraniofacial Manifestations in Severe Nemaline MyopathyXue, Yunfeng BA*; Magoulas, Pilar L. MS, CGC†; Wirthlin, John O. DDS*; Buchanan, Edward P. MD*Author Information *Division of Plastic Surgery, Michael E. Debakey Department of Surgery, Baylor College of Medicine †Department of Molecular and Human Genetics, Baylor College of Medicine/Texas Children's Hospital, Houston, TX. Address correspondence and reprint requests to Edward P. Buchanan, MD, Baylor College of Medicine, 6701 Fannin Street, CC 610.00, Houston, TX 77030; E-mail: [email protected] Received 30 August, 2016 Accepted 20 November, 2016 The authors report no conflicts of interest. Journal of Craniofacial Surgery: May 2017 - Volume 28 - Issue 3 - p e258-e260 doi: 10.1097/SCS.0000000000003483 Buy Metrics Abstract Nemaline myopathy (NM) is a rare congenital muscular disease characterized by the presence of rod (nemaline) bodies visualized on muscle biopsy. The disease is genetically and clinically heterogeneous, and the age of onset can vary from neonate to adult. Patients typically present initially with diffuse muscle weakness and hypotonia. The disease also afflicts facial musculature and can cause anomalous facial growth and development. The authors report a patient of early onset NM with significant craniofacial abnormalities. The untreated facial growth is discussed and illustrated in this article. The authors reviewed the current knowledge in the literature regarding the molecular and genetic pathogenesis of NM. The roles of both surgical and supportive management are discussed in this particular patient. © 2017 by Mutaz B. Habal, MD.