Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.
We present a clinical and radiographic study of a family with the autosomal dominant form of spondyloepiphyseal dysplasia tarda, in some patients associated with hearing deficiency. Although no causal treatment is possible, correct diagnosis is important to avoid unnecessary treatment and for information about prognosis, genetic counseling, and recommendation of future occupation.
Schantz
K
K
Department of Orthopedics, Odense University Hospital, Denmark.
Andersen
P E
PE
Justesen
P
P
D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D011859:Radiography; D014830:Vocational Guidance