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