The precision of 40K determination in man by the tilt-chair technique is compromised by geometrical and self absorption factors. In an attempt to improve calibration accuracy simultaneous measurements of 40K and total body water (deuterium dilution) were made in 50 subjects of widely varying body size. The results show that neither height nor weight ger se affects the observed body ratio of 40K/H,0, and that the principal systematic error concerns the relative fat content of the subject. Correction of the observed 40K values for this factor improves the accuracy of the measurement.
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed.
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