Pallister-Hall syndrome andMcKusick- Kaufmannsyndrome: one entity?

The Pallister-Hall syndromeischaracterised by specific facialanomalies, postaxial polydactyly, imperforate anus, andbrainanomalies including a diencephalic hamartoblastoma. Thehallmarks oftheMcKusick-Kaufmann syndrome are hydrocolpos owingtovaginal atresia, postaxialpolydactyly, imperforate anus,and congenital heartdefects. We reporta patientwiththe uniquefeatures of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma anddiscussthedifferent aetiological considerationsofbothsyndromesand implications forclinical management. (JMedGenet 1995;32:125-128) In1980anewsyndrome wasdescribed byHall etallcalled Pallister-Hall syndrome (PHS). The mainsymptomsarefacial anomalies, postaxial polydactyly, imperforate anus,and hypothalamic hamartoblastoma. Postaxial