The Craniofacial Surgeon As Amateur Geneticist
- 1 January 2002
- journal article
- review article
- Published by Wolters Kluwer Health in The Journal of Craniofacial Surgery
- Vol. 13 (1) , 3-17
- https://doi.org/10.1097/00001665-200201000-00002
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.Keywords
This publication has 33 references indexed in Scilit:
- Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainageJournal of Neurosurgery, 2001
- Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler PhenotypesAmerican Journal of Human Genetics, 1999
- Hydrocephalus and craniosynostosisJournal of Neurosurgery, 1998
- Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromeNature Genetics, 1998
- A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22Human Molecular Genetics, 1997
- Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.Journal of Medical Genetics, 1997
- Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricansNature Genetics, 1995
- Further delineation of the branchio‐oculo‐facial syndromeAmerican Journal of Medical Genetics, 1995
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3Nature Genetics, 1995
- Syndrome designations.Journal of Medical Genetics, 1976