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Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

1995; BMJ; Volume: 32; Issue: 2 Linguagem: Inglês

10.1136/jmg.32.2.125

1468-6244

K M Unsinn, Nikolaus Neu, Aneta Krejčí, Andreas Pösch, G Menardi, Ingmar Gaßner,

Tumors and Oncological Cases

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.