Issn Print: 0962-8827

Publication Date: 1994/10/01


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Jaffe-Campanacci syndrome: case report and review of literature

D. KOTZOT; H. STÖB; H. WAGNER; R. ULMER

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Author Information: Institute of Human Genetics, University of Erlangen-Nurnberg, Schwabuchanlage 10, 91054 Erlangen, Germany

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Abstract

We report a 27-year-old Caucasian woman with Jaffe-Campanacci syndrome. She presented with multiple café-au-lait spots and multiple non-ossifying fibromata of the bones, noted on radiographs and proven by tissue biopsies. Only the left side was involved She also suffered from moderate scoliosis, stenosis of the aortic isthmus, chylothorax. and a chylopericardium. The etiology is discussed.

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