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 CASE REPORT
Year : 2000  |  Volume : 46  |  Issue : 2  |  Page : 98-100

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


Genetics Division, Department of Paediatrics, Seth G. S. Medical College & K. E. M. Hospital, Parel, Mumbai - 400 012, India. , India

Correspondence Address:
M S Tullu
Genetics Division, Department of Paediatrics, Seth G. S. Medical College & K. E. M. Hospital, Parel, Mumbai - 400 012, India.
India
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Source of Support: None, Conflict of Interest: None


PMID: 0011013475

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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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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow