Karl-Henrik Gustavson

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Based on nine patients 4 to 26 years of age, we describe the clinical characteristics of chronic recurrent multifocal osteomyelitis. This disorder was characterized by an insidious onset of fever, local swelling and pain in affected bones, and radiologic findings suggesting osteomyelitis. The lesions were mainly localized to the clavicles and the metaphyses(More)
Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation. We report here the identification of 10 novel frataxin point mutations, and(More)
Congenital chloride diarrhea is a recessively inherited intestinal disorder affecting electrolyte transportation. The clinical presentation is a life-threatening watery diarrhea with a high chloride content. Recently, the congenital chloride diarrhea gene (CLD) was assigned to chromosome 7 by linkage in eight Finnish families. In the present study, refined(More)
Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84,(More)
We report a retrospective study of diabetic children, 0--14 years of age, from seven Swedish departments of paediatrics. There were 359 new cases in the years 1970--1975. Notification suggested that there was a mean yearly incidence of 19.6 cases per 100 000 with a year to year variation of 10.0--26.4 per 100 000. Consequently about 330 new cases of(More)
AIM To study the health and development of children in a developing and low-income country. METHODS The health and development of children in Lahore in northern Pakistan have been studied since 1981 in a collaborative project between Pakistani and Swedish university institutions and the Swedish Agency for Research Cooperation with Developing Countries(More)
In previous study we found that clavicular lesions in chronic recurrent multifocal osteomyelitis (CRMO) in young patients was associated with palmoplantar pustulosis (PPP). In this work the relationship between sternoclavicular lesions and PPP was studied in a group of adult patients. The sternoclavicular region of 52 patients with PPP and 25 control(More)
In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50-70) born 1959-1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X-chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined(More)
A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01(More)