Imaging of a rare disorder: macrodystrophia lipomatosa
SA Journal of Radiology
Field | Value | |
Title | Imaging of a rare disorder: macrodystrophia lipomatosa | |
Creator | Suleman, Farhana Ebrahim Kisansa, Margaret | |
Description |
Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localized macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue(1). We describe two cases presenting to our department in a six month period, with a history of disproportionately large limbs since birth. While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present. An extensive search of the literature failed to yield any cases described without osseus gigantism but at the same time the other radiological features failed to fit in with any other related syndromes and the most appropriate diagnosis appears to be MDL. Thus we concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and therefore failed to demonstrate full expression of the syndrome. |
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Publisher | AOSIS | |
Date | 2010-06-07 | |
Identifier | 10.4102/sajr.v14i2.425 | |
Source | South African Journal of Radiology; Vol 14, No 2 (2010); 39 2078-6778 1027-202X | |
Language | eng | |
Relation |
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https://sajr.org.za/index.php/sajr/article/view/425/563
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/879
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/880
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/881
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/882
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/883
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/884
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/885
https://sajr.org.za/index.php/sajr/article/downloadSuppFile/425/886
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