Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta.
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.
Goldblatt
J
J
Department of Genetics, Princess Margaret Hospital for Children, Perth, Western Australia.
Carman
P
P
Sprague
P
P
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