Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome

Acta Paediatr Scand. 1989 Sep;78(5):736-41. doi: 10.1111/j.1651-2227.1989.tb11135.x.


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

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blepharoptosis / genetics*
  • Child
  • Child, Preschool
  • DNA / genetics
  • Denmark
  • Female
  • Hirschsprung Disease / genetics*
  • Humans
  • Male
  • Mandible / physiopathology*
  • Middle Aged
  • Neuroblastoma / genetics*
  • Neurofibromatosis 1 / genetics*
  • Pedigree
  • Syndrome


  • DNA