Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome

Clin Genet. 1995 Oct;48(4):209-12. doi: 10.1111/j.1399-0004.1995.tb04090.x.


We report on a 53-year-old woman and her 20-year-old son who both presented with polysndactyly, without other external malformations or mental retardation. MRI imaging revealed, as an incidental finding, asymptomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hall syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Female
  • Hamartoma / genetics*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Hypothalamic Diseases / diagnosis
  • Hypothalamic Diseases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Radiography
  • Syndactyly / genetics*
  • Syndrome