title: The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.
abstract: A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies.
authors.affiliation: Clinical Professor, Department of Pediatrics, Harvard Medical School, Boston; Genetics Unit, Massachusetts General Hospital for Children, Boston, MA. Electronic address: lin.angela@mgh.harvard.edu.
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery; D000293:Adolescent; D000328:Adult; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000601:surgery; D016569:Blepharophimosis / Q000175:diagnosis / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000601:surgery; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities / Q000601:surgery; D004427:Ear Diseases / Q000175:diagnosis / Q000601:surgery; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D005826:Genetics, Medical; D006266:Health Education; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010347:Patient Care Planning; D010348:Patient Care Team; D012944:Social Support; D013515:Surgery, Oral; D013577:Syndrome