[Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling].
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.
Martello
C
C
Istituto di Pediatria, Università di Perugia, Italia.
Stangoni
G
G
Mezzetti
D
D
Calabro
A
A
Cianfrini
D
D
Lungarotti
M S
MS
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*
Disostosi spondilo-costale: presentazione di un nuovo caso ad ereditarietà autosomica dominante e discussione delle problematiche della consulenza genetica.