X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
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چکیده
منابع مشابه
X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one family under the title 'hereditary osteochondrodystrophia deformans'. Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who proposed the name dysplasia spondyloepiphysaire tardive, or spondyloepiphyseal dysplasia tarda (SDT). These authors also d...
متن کاملMutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is ...
متن کاملX-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into...
متن کاملX-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
STUDY DESIGN Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect. OBJECTIVES To report the typical radiologic presentation of patients with X-linked spondyloepiphyseal dysplasia tarda and the diagnostic tool of mutatio...
متن کاملCorneal changes in spondyloepiphyseal dysplasia tarda.
BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). CASE A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. OBSERVATIONS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT....
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1971
ISSN: 1468-6244
DOI: 10.1136/jmg.8.3.291