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Journal of Postgraduate Medicine
Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India
ISSN: 0022-3859
EISSN: 0022-3859
Vol. 46, No. 2, 2000, pp. 98-100
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Bioline Code: jp00027
Full paper language: English
Document type: Research Article
Document available free of charge
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Journal of Postgraduate Medicine, Vol. 46, No. 2, 2000, pp. 98-100
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Case Report - Neurofibromatosis-Noonan Syndrome or LEOPARD Syndrome? A Clinical Dilemma
Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, (Late) Bharucha BA
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.
Keywords
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
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