The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature.
We report on a discordant twin male with neurofibromatosis and manifestations of the Noonan syndrome. He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. The presence of neurofibromatosis associated with Noonan syndrome phenotype in our patient raises the question of a unique disorder sharing characteristics of both conditions.
Borochowitz
Z
Z
Genetics Institute, Bnai-Zion Medical Center (Rothschild), Technion-Faculty of Medicine, Haifa, Israel.
Berant
N
N
Dar
H
H
Berant
M
M
D000293:Adolescent; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*; D009634:Noonan Syndrome / Q000150:complications*; D013577:Syndrome; D014429:Twins, Dizygotic