Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the disease.
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.
Nores
J M
JM
Department of Internal Medicine, Hospital Raymond Poincare, Garches, France.
Dizien
O
O
Remy
J M
JM
Maroteaux
P
P
D000328:Adult; D001827:Body Height; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree