Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).
Neurofibromatosis type 1 (NF-1) was incidentally diagnosed in a 1-year-old girl. Her father was found to show the cutaneous signs of segmental neurofibromatosis (NF-5). This observation supports the possibility that subjects with NF-5 can transmit NF-1 to their offsprings in some cases, which has to be considered in genetic counseling.
Boltshauser
E
E
Department of Neurology, Children's University Hospital, Switzerland.
Stocker
H
H
Mächler
M
M
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*