*Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Harvard Medical School
†Shriners Hospital for Children, Boston, MA
‡Institute of Human Genetics, University of Bonn, Bonn, Germany
§Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA
∥Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC
¶Center for Craniofacial Innovation, Children’s Hospital of Philadelphia, Philadelphia, PA
Hospital for Children supported this work. This work was supported, in part, by the Intramural Research Program of the National Institutes of Health, National Institute of Environmental Health Sciences (Z01-ES103315 and 1ZIDES102465-13).
M.B.: prepared the manuscript and figures, carried out the literature review, and reviewed the clinical records of the patients. J.K.: contributed to the manuscript and reviewed the clinical records of the patients. A.T.S.: prepared and revised the manuscript and reviewed the clinical records of the patients. M.R.B.: extracted and Sanger-sequenced the DNA and drew the pedigree. S.B.: collected clinical data of both patients. Z.S.P.: carried out the planning and execution of the Le Fort II osteotomies and midface distraction; manuscript preparation and editing. B.B.: carried out the planning and execution of the nasal construction. N.D.S: supervised the DNA sequencing and reviewed the clinical records. E.C.L.: conceived the manuscript, prepared the figures and manuscript, supervised the regulatory and compliance of the study, and assembled the clinical and scientific collaborators to carry out this work.
M.B. is a recipient of the Shiners Hospital Research Fellowship. E.C.L. is a recipient of the Massachusetts General Laurie and Mason Tenaglia Research Scholar award. N.D.S. is also supported as a Lasker Clinical Research Scholar (1SI2ES025429-01). The remaining authors report no conflicts of interest.
Address correspondence and reprint requests to Eric C. Liao, MD, PhD, Center for Craniofacial Innovation, Children’s Hospital of Philadelphia, 3501, Civic Center Boulevard, Philadelphia, PA 19044. E-mail: [email protected]
