The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature.
The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.
Margari
L
L
Department of Neurological and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy. l.margari@neurol.uniba.it
Presicci
A
A
Ventura
P
P
Bacca
S M
SM
Tota
T
T
Perniola
T
T
Gentile
M
M
D000130:Achondroplasia / Q000150:complications* / Q000235:genetics*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics*