Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literatureThis article is a US Government work and, as such, is in the public domain in the United States of America.How to cite this article: Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MRP, Knightly C, McDonald‐McGinn D, Zackai EH, Muenke M. 2007. Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature. Am J Med Genet Part A 143A:3204–3215.

Autor: Doherty, Emily S., Lacbawan, Felicitas, Hadley, Donald W., Brewer, Carmen, Zalewski, Christopher, Kim, H. Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L., Hart, Thomas C., Brooks, Brian P., Immken, LaDonna, Lowry, R. Brian, Kimonis, Virginia, Shanske, Alan L., Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald‐McGinn, Donna, Zackai, Elaine H., Muenke, Maximilian
Zdroj: American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p3204-3215, 12p
Abstrakt: Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a study of the natural history of Muenke syndrome. To date, we have conducted a standardized evaluation of nine patients with a confirmed Pro250Arg mutation in FGFR3. We reviewed audiograms from an additional 13 patients with Muenke syndrome. A majority of the patients (95%) demonstrated a mild‐to‐moderate, low frequency sensorineural hearing loss. This pattern of hearing loss was not previously recognized as characteristic of Muenke syndrome. We also report on feeding and swallowing difficulties in children with Muenke syndrome. Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling. Published 2007 Wiley‐Liss, Inc.
Databáze: Supplemental Index
Externí odkaz: