Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3
- Pathologisches Institut der Universitaet Muenchen (Germany)
- Kinderlinik und Poliklinik der Technischen Universitaet, Muenchen (Germany)
- Institut Necker, Paris (France)
We describe two fetuses of the 21st week of gestation that share some macroscopic, radiologic, and histologic findings of thanatophoric dysplasia (TD), but also show distinct differences from the usual subtypes of TD. These differences mainly comprise the lack of facial abnormality, only mild reduction of chondrocyte proliferation and hypertrophy, and the lack of fibrous tissue interposition between cartilage and periosteal bone. Thus, these two cases may represent a distinct variant of thanatophoric dysplasia. The molecular analysis of the FGF-R-3 gene demonstrated in both cases mutations which were not significantly different from those of other cases of TD. Thus, the phenotypic modulation within the subtypes of TD may be influenced by additional and yet unknown factors. 16 refs., 4 figs., 1 tab.
- OSTI ID:
- 441194
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 63; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Fibrous dysplasia of the facial bones and mandible
SARCOMA COMPLICATING FIBROUS DYSPLASIA. PROBABLE ROLE OF RADIATION THERAPY