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Case Reports
. 1996 May 3;63(1):46-9.
doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U.

Dyssegmental dysplasia with glaucoma

P Maroteaux  1 , S Manouvrier, J Bonaventure, M Le Merrer
Affiliations
Case Reports

Dyssegmental dysplasia with glaucoma

P Maroteaux et al. Am J Med Genet. .

Abstract

We report on a "new" syndrome in 2 unrelated children with some manifestations of Kniest dysplasia and with spine abnormalities suggestive of dyssegmental dysplasia. Glaucoma with important ocular impairment was associated with severe dwarfism. No mutation of the COL2A1 gene was detected. The inheritance of this new type of skeletal dysplasia in unknown.

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