Osteoglophonic dysplasia is an autosomal dominant disorder caused by activating mutations of the FGFR1 gene. The clinical feature result from abnormal bone growth and include craniofacial abnormalities and dwarfism. The term osteoglophonic stems from x-ray images in which bone appears as hollowed out.
Clinical features include:
Dysmorphism | |
Dysmorphisms are mainly craniofacial. |
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Growth retardation | |
Dwarfism results from disturbed bone growth and short limbs. |
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Hypophosphatemia | |
Hypophosphatemia results from hyperphosphaturia. |
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Hyperphosphaturia | |
Hyperphosphaturie is caused by disrupted intracellular signaling in proximal tubulus cells. |
1. |
Beighton P et al. (1980) Osteoglophonic dwarfism. |
2. |
Riminucci M et al. (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. |
3. |
White KE et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. |
4. |
Farrow EG et al. (2006) Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. |
5. |
Scriver CR et al. (1969) Pseudohypophosphatasia. |
6. |
Keats TE et al. (1975) Craniofacial dysotosis with fibrous metaphyseal deffects. |
7. |
Greenberg F et al. (1990) Osteoglophonic dysplasia. |
8. |
None (1989) Osteoglophonic dysplasia. |
9. |
Santos H et al. (1988) Osteoglophonic dysplasia: a new case. |
10. |
Kelley RI et al. (1983) Osteoglophonic dwarfism in two generations. |
11. |
OMIM.ORG article Omim 166250 |
12. |
Wikipedia article Wikipedia EN (Dwarfism) |