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J Postgrad Med. 2000 Apr-Jun;46(2):98-100.

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

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  • 1Genetics Division, Department of Paediatrics, Seth G. S. Medical College & K. E. M. Hospital, Parel, Mumbai - 400 012, India. milindtullu@yahoo.com

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.

PMID:
11013475
[PubMed - indexed for MEDLINE]
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