Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level

被引：28

作者：

Cohen, MM ^{[1
]}

机构：

[1] Dalhousie Univ, Fac Dent, Dept Oral & Maxillofacial Sci, Halifax, NS B3H 3J5, Canada

[2] Dalhousie Univ, Fac Med, Dept Pediat, Halifax, NS B3H 3J5, Canada

来源：

INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY | 1998年 / 27卷 / 06期

关键词：

fibroblast growth factor receptor 3 (FGFR3); endochondral bone formation; disproportionate short stature; cranial base; nasal capsule; midface deficiency; craniosynostosis; cloverleaf skull;

D O I：

10.1016/S0901-5027(98)80036-2

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.

引用

页码：451 / 455

页数：5

共 29 条

[1] A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA
BELLUS, GA
MCINTOSH, I
SMITH, EA
AYLSWORTH, AS
KAITILA, I
HORTON, WA
GREENHAW, GA
HECHT, JT
FRANCOMANO, CA
[J]. NATURE GENETICS, 1995, 10 (03) : 357 - 359
[2] BELLUS GA, 1995, AM J HUM GENET, V56, P368
[3] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
Bellus, GA
Gaudenz, K
Zackai, EH
Clarke, LA
Szabo, J
Francomano, CA
Muenke, M
[J]. NATURE GENETICS, 1996, 14 (02) : 174 - 176
[4] BELLUS GA, IN PRESS SKELETAL SK
[5] Bonaventure J, 1996, AM J MED GENET, V63, P148, DOI 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO
[6] 2-N
[7] Cohen Jr MM, 1997, CHILD MULTIPLE BIRTH
[8] Short-limb skeletal dysplasias and craniosynostosis: What do they have in common?
Cohen, MM
[J]. PEDIATRIC RADIOLOGY, 1997, 27 (05) : 442 - 446
[9] COHEN MM, 1969, CRANIOSYNOSTOSIS DIA, pCH23
[10] Fibroblast growth factor receptor 3 is a negative regulator of bone growth
Deng, CX
WynshawBoris, A
Zhou, F
Kuo, A
Leder, P
[J]. CELL, 1996, 84 (06) : 911 - 921

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