Case Report - Neurofibromatosis-Noonan Syndrome or LEOPARD Syndrome? A Clinical Dilemma

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 r...

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Bibliographic Details
Published in:Journal of postgraduate medicine (Bombay) 2003-03, Vol.46 (2)
Main Author: Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, (Late) Bharucha BA
Format: Article
Language:English
Subjects:
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
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Summary: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.
ISSN:0022-3859