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 defor- mans'.Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who pro- posed 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 re- sults have been presented by Bannerman, Ingall, and Mohn (1966a and b) and Bannerman (1969).Blood Grouping.Blood specimens were col- lected by venepuncture into sterile, screw-cap tubes without anticoagulant and were usually brought to the Blood Group Research Unit on the same day.Occasionally they had to be transported by air from Received 16 February 1971.distant parts of the country.On some of these two separate samples were tested with no discrepancies in the results.