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 inform...
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Veröffentlicht in: | Acta orthopaedica 1988, Vol.59 (6), p.716-719 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 1745-3674 0001-6470 1745-3682 |
DOI: | 10.3109/17453678809149433 |