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

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Abstract
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-winkling 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 suggests a link between the pathogenesis of these diseases, but also makes it highly likely that a single mutation segregating within the family is responsible for this association.

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