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
Post JC, Mulvihill JJ, Ehrlich GD. International Genetic Workshop on Crouzon Disease and Other Craniofacial Disorders, Pittsburgh, Pa, March 10-11, 1995. Arch Otolaryngol Head Neck Surg. 1996;122(5):576–578. doi:10.1001/archotol.1996.01890170108020
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: