Journal article
International Genetic Workshop on Crouzon Disease and Other Craniofacial Disorders, Pittsburgh, Pa, March 10-11, 1995
Archives of otolaryngology--head & neck surgery, v 122(5), pp 576-578
01 May 1996
Abstract
Facial appearance identifies an individual and instantly creates an impression on the observer. Abnormal facial features challenge affected individuals both socially and medically. These patients are at risk of developing problems, eg, communication, hearing, obstructive sleep apnea, and chronic sinusitis. Otolaryngologists should be aware of recent advances in molecular genetics as it affects craniofacial abnormalities.Through familial linkage analyses and candidate gene sequencing studies, substantial progress has been achieved recently in understanding the genetic basis of human craniofacial development. Mapping the gene for Crouzon craniofacial dysostosis (CFD) to 10q25-261 led to the discovery that some patients with CFD had mutations in the fibroblast growth factor (FGF) receptor gene (FGFR2).2 The FGFR2 mutations were also shown to be responsible for the Jackson-Weiss,3 Apert,4 and some cases of Pfeiffer5 syndromes. Pfeiffer syndrome, however, was demonstrated to be heterogeneous as mutations in FGFR1 (chromosome 8) were found in
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7 citations in Scopus
Details
- Title
- International Genetic Workshop on Crouzon Disease and Other Craniofacial Disorders, Pittsburgh, Pa, March 10-11, 1995
- Creators
- J. Christopher PostJohn J MulvihillGarth D Ehrlich
- Publication Details
- Archives of otolaryngology--head & neck surgery, v 122(5), pp 576-578
- Publisher
- American Medical Association
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Microbiology and Immunology
- Scopus ID
- 2-s2.0-0029934714
- Other Identifier
- 991014969751004721