Harry Angelman (1915-1996) was an English paediatrician
- Born on August 13, 1915 in Birkenhead, England
- 1938 – MB ChB University of Liverpool
- 1940 – DCH
- 1947 – MRCP
- 1948 – MD
- 1950-1976 Consultant paediatrician at Warrington General Hospital
- 1971 – FRCP
- Died on August 8, 1996 in Portsmouth, England
Angelman syndrome (1965)
Angelman syndrome (AS) is characterised by intellectual and developmental delay, speech impediment, sleep disturbance, unstable jerky gait, seizures, hand flapping movements, frequent laughter/smiling and usually a happy demeanour.
Angelman syndrome results from a lack of maternal contribution from chromosome 15q11-q13, arising from de novo deletion in most cases or from uniparental disomy in rare cases. The sister syndrome is called Prader-Willi syndrome, and is caused by loss of paternal genes.
- Angelman H, Spencer R. The syndrome of obstruction of inferior vena cava in childhood. Br Med J. 1950 Sep 30;2(4682):752-5.
- Angelman H. Syndrome of coloboma with multiple congenital abnormalities in infancy. Br Med J. 1961 Apr 29;1(5234):1212-4.
- Angelman H. ‘Puppet’ Children: A report of three cases. Dev Med Child Neurol. 1965; 7(6): 681–688
- Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet. 1995 Mar 27;56(2):237-8.
- Obituary. Harry Angelman. BMJ 1997;314:231
- Biography: Harry Angelman. Lives of the Fellows of the Royal College of Physicians of London. Munk’s Roll: Volume X: 9.
- Hart H. ‘Puppet’ children. A report on three cases (1965). Dev Med Child Neurol. 2008 Aug;50(8):564
- Angelman Syndrome. #105830. OMIM
- Madaan M, Mendez MD. Angelman Syndrome. 2023 Jan 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls
the person behind the name
Medical student University of Sydney. Currently on sabbatical with the Wallabies and Western Force rugby
Associate Professor Curtin Medical School, Curtin University. Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM Sir Charles Gairdner Hospital. Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |