King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia
References
- King JO, Denborough MA. Anesthetic-induced malignant hyperpyrexia in children. J Pediatr. 1973;83(1):37–40. doi:10.1016/s0022-3476(73)80309-9
- Heiman-Patterson TD, Rosenberg HR, Binning CP, Tahmoush AJ. King-Denborough syndrome: contracture testing and literature review. Pediatr Neurol. 1986;2(3):175–7. doi: 10.1016/0887-8994(86)90013-5
- Isaacs H, Badenhorst ME. Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. Muscle Nerve. 1992;15(6):740–2. doi: 10.1002/mus.880150619
- Graham GE, Silver K, Arlet V, Der Kaloustian VM. King syndrome: further clinical variability and review of the literature. Am J Med Genet. 1998;78(3):254–9. doi: 10.1002/(sici)1096-8628(19980707)78:3<;254::aid-ajmg9>3.0.co;2-p
- Reed UC, Resende MB, Ferreira LG, Carvalho MS, Diament A, Scaff M, et al. King-Denborough Syndrome: report of two Brazilian cases. Arq Neuropsiquiatr. 2002;60(3-B):739–41. doi: 10.1590/s0004-282x2002000500011
- Kaur H, Katyal N, Yelam A, Kumar K, Srivastava H, Govindarajan R. Malignant Hyperthermia. Mo Med. 2019;116(2):154–9.
- D’Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, et al. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology. 2008;71(10):776–7. doi: 10.1212/01.wnl.0000324929.33780.2f
- Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011;21(6):420–7. doi: 10.1016/j.nmd.2011.03.006
- Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019. Orphanet J Rare Dis. 2020;15(1):113.doi: 10.1186/s13023-020-01384-x
- Webb BD, Manoli I, Jabs EW. STAC3 Disorder. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews((R)). Seattle (WA) 1993.
- Wappler F. Anesthesia for patients with a history of malignant hyperthermia. Curr Opin Anaesthesiol. 2010;23(3):417–22. doi: 10.1097/ACO.0b013e328337ffe0
- Tsutsumi YM, Nagasaka H, Mukaida K, Ichihara Y, Yasuda T, Miyoshi H, et al. JSA guideline for management of malignant hyperthermia in 2025. J Anesth. 2026;40(1):4–12. doi: 10.1097/ACO.0b013e328337ffe0
- Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14(12):785–90. doi: 10.1016/j.nmd.2004.08.006
- Riazi S, Biesecker LG, Rosenberg H, Dirksen RT. Nonsyndromic Malignant Hyperthermia Susceptibility. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews((R)). Seattle (WA) 1993.
DOI: https://doi.org/10.34763/jmotherandchild.20263001.d-26-00012 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 116 - 122
Submitted on: Mar 17, 2026
Accepted on: Apr 23, 2026
Published on: Jun 28, 2026
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Related subjects:
© 2026 Piotr Nowakowski, Karolina Czeczko, Anna Potulska-Chromik, Justyna Żelewska, Aleksandra Jastrzębska, Anna Wójcicka, Paweł Gaj, Anna Kostera-Pruszczyk, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.