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osteoglophonic dysplasia/dwarfism
Pathology:
- craniosynostosis
- prominent supraorbital ridge
- depressed nasal bridge
- rhizomelic dwarfism
- nonossifying bone lesions
Genetics:
- autosomal dominant
- associated with defects in FGFR1
General
skeletal dysplasia
Database Correlations
OMIM 166250
References
OMIM :accession 166250