Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

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2000-04-03
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Abstract
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.
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Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, Bharucha BA. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. Journal of Postgraduate Medicine. 2000 Apr-Jun; 46(2): 98-100