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Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta
J Goldblatt1, P Carman, P Sprague
1Department of Genetics, Princess Margaret Hospital for Children, Perth, Western Australia.
American Journal of Medical Genetics
|May 1, 1991
Abstract:
We report a 3 1/2-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.