Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?. Issue 2 (February 1995)

• Record Type: Journal Article
• Authors: Unsinn, K M; Neu, N; Krejci, A; Posch, A; Menardi, G; Gassner, I
• Is Part Of: Journal of medical genetics. Volume 32:Issue 2(1995)
• Page Start: 125
• Page End: 128
• Publication Date: 1995-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.2.125
• Languages: English
• ISSNs: 1468-6244

Abstract

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.