title: Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta.
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.
authors.affiliation: Department of Genetics, Princess Margaret Hospital for Children, Perth, Western Australia.
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: P
authors.initials: P
authors.lastname: Carman
authors.forename: P
authors.initials: P
authors.lastname: Sprague
mesh_terms: D002675:Child, Preschool; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007593:Joint Instability / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome