Cockayne syndrome type III with high intelligence.
A female patient with some characteristic symptoms of Cockayne syndrome is presented; however, she has high intelligence, and is not a dwarf but is cachectic (30 kg). No characteristic neurological features were seen, and her menstrual cycle is regular. Her disease was thus considered to be Cockayne syndrome type III.
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Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases and Semmelweis University of Medicine, Budapest, Hungary.
Marchalkó
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D000293:Adolescent; D003057:Cockayne Syndrome / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007360:Intelligence