[Cornelia de Lange syndrome and the woman behind the syndrome].
The phrase syndrome indicates that certain symptoms and signs run together as a clinical entity. Collectively they characterize a particular disease or abnormal condition. Some syndromes are rare, but it is important to recognize them. Correct and early diagnosis is important for the individuals concerned, and for their families. Cornelia de Lange syndrome in its classical form is a syndrome of several congenital abnormalities and mental retardation. When not fully developed the syndrome may cause diagnostic problems. The authors discuss some biographical data about Cornelia de Lange and some matters concerning the syndrome.
Avdeling for voksenhabilitering, Ullevål sykehus, Oslo.
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AM
Wolland
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Lindback
D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics / Q000266:history*; D005260:Female; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands; D010372:Pediatrics / Q000266:history; D013577:Syndrome
Cornelia de Langes syndrom og kvinnen bak syndromet.