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Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
  1. K M Unsinn,
  2. N Neu,
  3. A Krejci,
  4. A Posch,
  5. G Menardi,
  6. I Gassner
  1. University Children's Hospital, Innsbruck, Austria.

    Abstract

    The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.

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