First-trimester prenatal diagnosis of Crouzon syndrome

Prenatal Diagnosis

Volumn 16, Issue 2, 1996, Pages 155-158

  Schwartz, Marianne ^a   Kreiborg, Sven ^b   Skovby, Flemming ^a  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

C342Y; Craniosynostosis; Crouzon syndrome; FGFR2

Indexed keywords

ARTICLE; CASE REPORT; CONTROLLED STUDY; CROUZON SYNDROME; FETUS; FIRST TRIMESTER PREGNANCY; GENETIC ANALYSIS; HUMAN; MUTATION; PRENATAL SCREENING; PRIORITY JOURNAL;

BASE SEQUENCE; CHORIONIC VILLI SAMPLING; CRANIOFACIAL DYSOSTOSIS; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0030038496     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199602)16:2<155::AID-PD826>3.0.CO;2-7     Document Type: Article

References (11)

1. Cohen, M.M., Jr., Kreiborg, S. (1992). Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods, Clin. Genet., 41, 12-15.
2. Dionne, C.A., Crumley, G., Bellot, F., Kaplow, J.M., Scartoss, G., Ruta, M., Burgess, W.H., Jaye, M., Schlessinger, J. (1990). Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors, EMBO J., 9, 2685-2692.
3. Kreiborg, S. (1993). Crouzon syndrome. A clinical and roentgencephalometric study, Scand. J. Plast. Reconstr. Surg. (Suppl.), 18.
4. Oldridge, M., Wilkie, A.O.M., Slaney, S.F., Poole, M.D., Pulleyn, L.J., Rutland, P., Hockley, A.D., Wake, M.J.C., Goldin, J.H., Winter, R.M., Reardon, W., Malcolm, S. (1995). Mutations in the third immunoglobin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome, Hum. Mol. Genet., 4, 1077-1082.
5. Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C., Jabs, E.W. (1995). Novel FGFR2 mutation in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability, Hum. Mol. Genet., 4, 1229-1233.
6. Preston, R.A., Post, J.C., Keats, B.J.B., Aston, C.E., Ferrell, R.E., Priest, J., Nouri, N., Losken, H.W., Morris, C.A., Hurtt, M.R., Mulvihill, J.J., Ehrlich, G.D. (1994). A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10, Nature Genet., 7, 149-153.
7. Reardon, W., Winter, R.M., Rutland, P., Pulleyn, L.J., Jones, B.M., Malcolm, S. (1994). Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet., 8, 98-103.
8. Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R.M., Oldridge, M., Slaney, S.F., Poole, M.D., Wilkie, O.M. (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet., 9, 173-176.
9. Shiang, R., Thompson, L.M., Zhu, Y.-Z., Church, D.M., Fielder, M.B., Winokur, S.T., Wasmuth, J.J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common form of dwarfism, achondroplasia, Cell, 78, 335-342.
10. Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.-Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Wasmuth. J.J. (1995). Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor 3, Nature Genet., 9, 321-328.
11. Wilkie, A.O.M., Slaney, S.F., Oldridge, M., Poole, M.D., Ashworth G.J., Hockley, A.D., Hayward, R.D., David, D.J., Pulleyn, L.J., Rutland, P., Malcolm. S., Winter, R.M., Reardon. W. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet., 9, 165-172.