Thanatophoric dysplasia
โ Scribed by L. E. Machado; F. Bonilla-Musoles; Prof N. G. Osborne
- Book ID
- 114434888
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 45 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0960-7692
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๐ SIMILAR VOLUMES
Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral
We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs