title: The craniofacial surgeon as amateur geneticist.
abstract: Craniofacial surgeons, by nature and training, focus on how to correct anomalies rather than on why they occur. Surgeons often leave diagnosis and etiopathogenic speculation to geneticists. Craniofacial surgeons should cross over the specialty line and learn to think like geneticists. This article reviews definitions of basic words in the genetic language and emphasizes the three diagnostic levels, phenotypic, pathogenic, and genetic, for the principal categories of craniofacial anomalies. Whenever possible, examples are given to illustrate how genetic knowledge can influence surgical strategy. As a member of the perinatal team, the craniofacial surgeon must be "cyber-savvy" to counsel parents and communicate with geneticists.
authors.affiliation: Craniofacial Center and Division of Plastic Surgery, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. mulliken@al.tch.harvard.edu
authors.forename: John B
authors.initials: JB
authors.lastname: Mulliken
mesh_terms: D001934:Branchial Region / Q000002:abnormalities; D003094:Collagen / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics; D005823:Genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010348:Patient Care Team; D010855:Pierre Robin Syndrome / Q000235:genetics; D013577:Syndrome; D009626:Terminology as Topic
chemical_list: D005346:Fibroblast Growth Factors; D003094:Collagen