Beals syndrome: clinical and molecular investigations in a kindred of Indian descent.
Eight members of a 3-generation kindred of Indian descent with congenital contractural arachnodactyly (Beals syndrome) have been appraised. Considerable variation was noted in the clinical features of affected persons, and the previously unreported associated finding of clubbing of the fingers and toes was evident in two individuals. The family was investigated using conventional serum and protein markers, and RFLP probes for type I and II collagen. No linkage in affected members could be demonstrated with type I collagen probes.
Viljoen
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Department of Human Genetics, University of Cape Town, Medical School, Observatory, South Africa.
Ramesar
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R
Behari
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D
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008382:Marfan Syndrome / Q000145:classification / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013019:South Africa
D015342:DNA Probes; D005819:Genetic Markers