Crouzon syndrome

The Pfeiffer, Jackson-WeIss, and Crouzon syndromes are cran-losynostosls syndromes cranlosynostosis Is a term signifying pre- ... 

S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat. Genet, 8, 98-103 (1994)... 

B. Malcolm, S. Winter, R.M. Oldridge, M. Slaney, S.F. et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat. Genet., 9, 173-176 (1995)... 

Steinberger, D. Mulliken, J.B. Muller, U. Crouzon syndrome previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. Hum. Mutat., 8, 386-390 (1996)... 

Jackson-Weiss (MIM 123150) and Crouzon (MIM 123500) syndromes Mutations In the gene encoding FGFR2. 

Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C., and Jabs, E.W. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4 1229-1233. 

Mr. Smith is affected with Crouzon s syndrome (123500) and has craniosynostosis (i.e., premature closure of the skull sutures) along with unusual facies that includes proptosis secondary to shallow orbits, hypoplasia of the maxilla, and a prominent nose. His son and brother are also affected, although two daughters and his wife are not. Mr. and Mrs. Smith are considering having another child. Their physician counsels them that the risk that the child will be affected with Crouzon s syndrome is... 

Congenital adrenal hyperplasia Congestive heart failure Chromosome disorders Chromosome mosaicism Chromosome translocation Copper excess Cri-du-chat syndrome Crouzon s syndrome Cushing s syndrome Cyanide poisoning Cystic fibrosis Diabetes insipidus Diabetes mellitus Dinitrophenol poisoning Diphtheria... 

A. F. Jabs, E.W. FGFR2 Exon Ilia and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am. J. Hum. Genet., 58, 491-498 (1996)... 

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