Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw-winking Syndrome

摘要: A family is reported with ganglioneuromas in the mother and neuroblastomas her two daughters co-existing cases of von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis, jaw-winking syndrome other members. There were no detectable constitutional chromosomal defects even when high resolution techniques applied. Similarly, DNA-hybridization analysis did not reveal gross molecular rearrangements vicinity proto-oncogenes N-myc-, c-myc, neu, N-ras. However, aggregation several rare, autosomal dominant diseases affecting tissue derived from neural crest only suggest a link between te pathogenesis these disease, but also makes it highly likely that single mutation segregating within responsible for this association.