A boy with neurofibromatosis 1 and Poland anomaly.
Von Recklinghausen neurofibromatosis (NF1) is one of the most common autosomal dominant disorders and has one of the highest mutation rates of a single human locus. The NF1 gene has recently been mapped to proximal 17q. Poland anomaly consists of the combination of unilateral aplasia of the sternal head of the pectoralis major muscle and an ipsilateral anomaly of the hand. Although other defects may occur in patients with Poland anomaly, neurofibromatosis 1 has not been reported. We have seen a boy with these two disorders.
Alembik
Y
Y
Institut de puériculture, Centre hospitalo-universitaire, Strasbourg.
Stoll
C
C
D002675:Child, Preschool; D006801:Humans; D007621:Karyotyping; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011045:Poland Syndrome / Q000235:genetics*