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P. Rutland, L. Pulleyn, W. Reardon, M. Baraitser, R. Hayward, B. Jones, S. Malcolm, R. Winter, M. Oldridge, S. Slaney, M. Poole, A. Wilkie (1995)
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesNature Genetics, 9
(1987)
Cloverleaf syndrome update
Andreas Nerlich, Peter Freisinger, Jacky Bonaventure (1996)
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.American journal of medical genetics, 63 1
W. Park, G. Bellus, E. Jabs (1995)
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.American journal of human genetics, 57 4
Woo-Jin Park, G. Meyers, Xiang Li, Christiane Theda, Donald Day, Seth Oriow, Marilyn Jones, E. Jabs (1995)
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.Human molecular genetics, 4 7
I. Stoilov, M. Kilpatrick, P. Tsipouras, T. Costa (1995)
Possible genetic heterogeneity in hypochondroplasia.Journal of Medical Genetics, 32
(1995)
A common FGFR 3 gene mutation in hypochondro - plasia
M. Muenke, U. Schell, A. Hehr, N. Robin, H. Losken, A. Schinzel, L. Pulleyn, P. Rutland, W. Reardon, S. Malcolm, R. Winter (1994)
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeNature Genetics, 8
(1995)
Stop codon FGFR - 3 mutations in thanatophoric dysplasia type I
R. Dambrain, M. Freund, G. Verellen, P. Pellerin, J. Francke, A. Dhem (1987)
Considerations about the cloverleaf skull.Journal of craniofacial genetics and developmental biology, 7 4
B. Hall, J. Spranger (1979)
Hypochondroplasia: clinical and radiological aspects in 39 cases.Radiology, 133 1
(1995)
Identical mutations in the FGFR - 2 gene cause both PfeifTer and Crouzon phenotypes
Hypochondroplasia (2020)
HypochondroplasiaDefinitions
(1995)
Recent molecular advances in dysmorphol
Maximilian Muenke, Ute Schell (1995)
Fibroblast-growth-factor receptor mutations in human skeletal disorders.Trends in genetics : TIG, 11 8
P. Prinos, T. Costa, A. Sommer, M. Kilpatrick, P. Tsipouras (1995)
A common FGFR3 gene mutation in hypochondroplasia.Human molecular genetics, 4 11
V. McKusick, T. Kelly, J. Dorst (1973)
Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia GenesJournal of Medical Genetics, 10
Jacky Bonaventure, F. Rousseau, L. Legeai-Mallet, M. Merrer, A. Munnich, Pierre Maroteaux (1996)
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.American journal of medical genetics, 63 1
J. Clayton-Smith (1993)
Syndromes of the Head and NeckArchives of Disease in Childhood, 68
Daniel Johnson, L. Williams (1993)
Structural and functional diversity in the FGF receptor multigene family.Advances in cancer research, 60
F. Oberklaid, D. Danks, F. Jensen, L. Stace, S. Rosshandler (1979)
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.Journal of Medical Genetics, 16
F. Rousseau, P. Saugier, M. Merrer, A. Munnich, A. Delezoide, P. Maroteaux, J. Bonaventure, F. Narcy, M. Sanak (1995)
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1Nature Genetics, 10
U. Schell, A. Hehr, G. Feldman, N. Robin, E. Zackai, C. Die-Smulders, D. Viskochil, J. Stewart, G. Wolff, H. Ohashi, R. Price, M. Cohen, M. Muenke, M. Muenke (1995)
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Human molecular genetics, 4 3
N. Heselson, B. Cremin, P. Beighton (1979)
The radiographic manifestations of hypochondroplasia.Clinical radiology, 30 1
RM Winter (1995)
Recent molecular advances in dysmorphology.Human molecular genetics, 4 Spec No
P. Tavormina, D. Rimoin, Daniel Cohn, Ya-Zhen Zhu, Rita Shiang, John Wasmuth (1995)
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.Human molecular genetics, 4 11
G. Bellus, I. Mcintosh, I. Mcintosh, E. Smith, A. Aylsworth, I. Kaitila, W. Horton, G. Greenhaw, J. Hecht, C. Francomano, C. Francomano (1995)
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaNature Genetics, 10
P. Tavormina, R. Shiang, L. Thompson, Ya-zhen Zhu, D. Wilkin, R. Lachman, W. Wilcox, D. Rimoin, D. Cohn, J. Wasmuth (1995)
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3Nature Genetics, 9
Kroczek (1986)
Cloverleaf skull associated with Pfeiffer syndrome: pathology and managementEur J Pediatr, 145
Holtermüller (1960)
Kleeblattschädel-SyndromMed Monatschr, 14
We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly. Hypochondroplasia is a bone dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Cloverleaf skull is a trilobar skull deformity which is etiologically and genetically heterogeneous and occurs in association with a number of disorders which result from mutations in the fibroblast growth factor receptor genes. Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. The occurrence of a cloverleaf skull deformity appears to represent an example of variable expressivity in hypochondroplasia and suggests that additional factors other than a specific mutation can modify the phenotype in this disorder. In addition, identification of another FGFR mutation associated with cloverleaf skull further illustrates the genetic heterogeneity of this anomaly.
Clinical Genetics – Wiley
Published: Nov 1, 1998
Keywords: hypochondroplasia; cloverleaf skull; fibroblast growth factor receptor
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