title: Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the disease.
abstract: We describe 2 cases of spondylometaphyseal dysplasia: in a 33-year-old woman and her 42-year-old stepsister. The usual pattern of inheritance is autosomal dominant. As this was not so in our cases, we offer another explanation.
authors.affiliation: Department of Internal Medicine, Hospital Raymond Poincare, Garches, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Nores
authors.forename: O
authors.initials: O
authors.lastname: Dizien
authors.forename: J M
authors.initials: JM
authors.lastname: Remy
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D000328:Adult; D001827:Body Height; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree