X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
نویسندگان
چکیده
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 drew attention to earlier description by Nilsonne (1927) and Volhard and von Drigalski (1937) of two sibships, each with three affected brothers. Other pedigrees have been reported by Barber (1960) and Langer (1964), and Hobaek's monograph (1961) includes at least one pedigree (family 13) which appears to fit the criteria for this syndrome. These may be listed as follows: (1) X-linked recessive inheritance. (2) Short stature first evident in childhood between 5-14 years. (3) Shortness due to impaired growth of spine. (4) Radiologically, characteristic flattening of vertebrae with central humping. (5) Dysplastic changes of femoral heads and neck. (6) Minor changes in other bones. We have had the opportunity to restudy the family described by Jacobsen and to re-examine several of his patients more than 25 years later. We report here the revised and extended pedigree, clinical and radiological findings in affected males and in carriers, and the results of a linkage study of SDT and Xga in this predigree. Preliminary results have been presented by Bannerman, Ingall, and Mohn (1966a and b) and Bannerman (1969).
منابع مشابه
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia...
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 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 کاملA case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
Masaki Takagi1, 2, Hiroko Yagi3, Yoshie Nakamura3, Hiroyuki Shinohara2, Ryojun Takeda2, Aya Shimada2, Gen Nishimura4, and Yukihiro Hasegawa2, 3 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Genetic Research, Tokyo Metropolitan Children’s Medical...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 8 3 شماره
صفحات -
تاریخ انتشار 1971