Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 155-160

  Nerlich, Andreas G ^a   Freisinger, Peter ^b   Bonaventure, Jacky ^c  

^a UNIVERSITY OF MUNICH   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

bone dysplasia; FGFR 3 mutations; thanatophoric dysplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; CARTILAGE CELL; CELL PROLIFERATION; DISEASE SEVERITY; FETUS; GENE MUTATION; HUMAN; HUMAN TISSUE; LETHAL GENE; PHENOTYPE; PRIORITY JOURNAL; SKULL MALFORMATION; THANATOPHORIC DWARFISM;

ADULT; ARGININE; BONE AND BONES; CARTILAGE; CYSTEINE; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETUS; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA; TYROSINE; VARIATION (GENETICS);

EID: 0029873142     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<155::AID-AJMG27>3.0.CO;2-M     Document Type: Article

References (16)

1. Brenner RE, Nerlich A, Heinze E, Vetter U, Teller WM (1993): Different regulation of clonal growth by transforming growth factor-β1 in human fetal articular and costal chondrocytes. Pediatr Res 33:390-393.
2. Darby AJ, Mercer J (1995): Thanatophoric dysplasia: Oswestry variant: An abnormality of the interlacunar network? 2nd Meeting of the Dysplasia Society, Versailles, 22.-23.6.1995, Abstract.
3. Ho KL, Chang CH, Yang SS, Chason JL (1984): Neuropathological findings in thanatophoric dysplasia. Acta Neuropathol 63: 218-228.
4. Horton WA, Hood OJ, Machado MA, Ahmed S, Griffey ES (1988): Abnormal ossification in thanatophoric dysplasia. Bone 9:53-61.
5. Kaufman R, Rimoin D, McAlister W, Kissane J (1970): Thanatophoric dwarfism. Am J Dis Child 120:53-57.
6. Langer LO Jr, Spranger JW, Greinacher I, Herdman C (1969): Thanatophoric dysplasia: A condition confused with achondroplasia in the neonate, with brief coments on achondrogenesis and homozygous achondroplasia. Radiology 92:285-294.
7. Langer LO, Yang SS, Hall JG, Sommer AM, Kottamasu SR, Golabi M, Krassikog N (1987): Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet 3:167-179.
8. Maroteaux P, Lamy M, Robert JM (1967): Le nanisme thanatophore. Presse Med 49:2519-2524.
9. Martínez-Frías ML, Ramos-Arroyo MA, Salvador J (1988): Thanatophoric dysplasia: An autosomal dominant condition? Am J Med Genet 31:815-820.
10. Norman A, Rimmer S, Landy S, Donnai D (1992): Thanatophoric dysplasia of the straight-bone type (type 2). Clin Dysmorphol 2: 115-120.
11. Orioli I, Castilla E, Barbosa-Neto J (1986): The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:328-332.
12. Peters K, Ornitz D, Werner S, Williams L (1993): Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol 155:423-430.
13. Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M (1995): Stop codon FGFR-3 mutations in thanatophoric dwarfism type 1. Nature Genet 10:11-12.
14. Spranger J, Maroteaux P (1990): The lethal osteochondrodysplasias. Adv Human Genet 19:1-103.
15. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ (1995): Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet 9: 321-328.
16. Wongmongkoirit T, Bush M, Roessmann U (1983): Neuropathological findings in thanatophoric dysplasia. Arch Path Lab Med 107: 132-135.