title: [Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling].
abstract: The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.
authors.affiliation: Istituto di Pediatria, Università di Perugia, Italia.
authors.forename: C
authors.initials: C
authors.lastname: Martello
authors.forename: G
authors.initials: G
authors.lastname: Stangoni
authors.forename: D
authors.initials: D
authors.lastname: Mezzetti
authors.forename: A
authors.initials: A
authors.lastname: Calabro
authors.forename: D
authors.initials: D
authors.lastname: Cianfrini
authors.forename: M S
authors.initials: MS
authors.lastname: Lungarotti
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*
vernacular_title: Disostosi spondilo-costale: presentazione di un nuovo caso ad ereditarietà autosomica dominante e discussione delle problematiche della consulenza genetica.