Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? - PubMed (original) (raw)
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Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
K M Unsinn et al. J Med Genet. 1995 Feb.
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.
Comment in
- Pallister-Hall and McKusick-Kaufmann syndromes.
Lurie IW. Lurie IW. J Med Genet. 1995 Aug;32(8):668. doi: 10.1136/jmg.32.8.668-a. J Med Genet. 1995. PMID: 7473667 Free PMC article. No abstract available.
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