Spondyloepiphyseal dysplasia tarda: Report of a family with autosomal dominant transmission
- 1 January 1988
- journal article
- research article
- Published by Medical Journals Sweden AB in Acta Orthopaedica
- Vol. 59 (6) , 716-719
- https://doi.org/10.3109/17453678809149433
Abstract
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.Keywords
This publication has 14 references indexed in Scilit:
- Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothersClinical Genetics, 2008
- Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothersThe Journal of Bone and Joint Surgery. British volume, 1986
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy.Journal of Medical Genetics, 1984
- A family with multiple musculoskeletal abnormalities.Annals of the Rheumatic Diseases, 1984
- Bilateral Failure of the Capital Femoral EpiphysisJournal of Pediatric Orthopaedics, 1983
- Complex Spondylo-Epi-Metaphyseal Dysplasia with severe Platyspondyly in Two BrothersAustralasian Radiology, 1978
- X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.Journal of Medical Genetics, 1971
- Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.Archives of Disease in Childhood, 1969
- Spondyloepiphysial Dysplasia TardaRadiology, 1964
- HEREDITARY OSTEOCHONDRODYSTROPHIA DEFORMANSJAMA, 1939