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:
- craniosynostosis (tower-shapped skull)
- prominent forehead (frontal bossing)
- widely spaced eyes (hypertelorism)
- flattening of the bridge of the nose and of the middle of the face (midface hypoplasia)
- a large tongue (macroglossia)
- protruding jaw (prognathism)
- short neck
- no visible teeth (clinical anodontia)
- gums overgrown (hypertrophic gingiva)
- failure to thrive
- short, bowed legs and arms
- short in stature
- flat feet
- short, broad hands and fingers Despite the prominent skull abnormalities intelligence seems not to be affected.
Dysmorphisms are mainly craniofacial.
Dwarfism results from disturbed bone growth and short limbs.
Hypophosphatemia results from hyperphosphaturia.
Hyperphosphaturie is caused by disrupted intracellular signaling in proximal tubulus cells.
Beighton P et al. (1980) Osteoglophonic dwarfism.[^]
Riminucci M et al. (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.[^]
White KE et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.[^]
Farrow EG et al. (2006) Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.[^]
Scriver CR et al. (1969) Pseudohypophosphatasia.[^]
Keats TE et al. (1975) Craniofacial dysotosis with fibrous metaphyseal deffects.[^]
Greenberg F et al. (1990) Osteoglophonic dysplasia.[^]
None (1989) Osteoglophonic dysplasia.[^]
Santos H et al. (1988) Osteoglophonic dysplasia: a new case.[^]
Kelley RI et al. (1983) Osteoglophonic dwarfism in two generations.[^]
OMIM.ORG articleOmim 166250 [^]
Wikipedia articleWikipedia EN (Dwarfism) [^]