Osteoglophonic dysplasia

Definition:

Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.

References:

[1]. A J Sow, et al. Osteoglophonic dysplasia: A 'common' mutation in a rare disease. Clin Genet. 2010 Aug;78(2):197-8. [Content Brief]

[2]. Kenneth E White, et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7. [Content Brief]

[3]. Vemanna Naveen Shankar, et al. Osteoglophonic dysplasia: a case report. J Oral Sci. 2010 Mar;52(1):167-71. [Content Brief]

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