title: Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.
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.
authors.affiliation: Genetics Division, Department of Paediatrics, Seth G. S. Medical College & K. E. M. Hospital, Parel, Mumbai - 400 012, India. milindtullu@yahoo.com
authors.forename: M S
authors.initials: MS
authors.lastname: Tullu
authors.forename: M N
authors.initials: MN
authors.lastname: Muranjan
authors.forename: V C
authors.initials: VC
authors.lastname: Kantharia
authors.forename: R C
authors.initials: RC
authors.lastname: Parmar
authors.forename: D R
authors.initials: DR
authors.lastname: Sahu
authors.forename: S B
authors.initials: SB
authors.lastname: Bavdekar
authors.forename: B A
authors.initials: BA
authors.lastname: Bharucha
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D017253:Neurofibromatoses / Q000150:complications* / Q000175:diagnosis*; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis*