Case Studies
Rothmund–Thomson syndrome: anaesthesia considerations
Submitted: 04 November 2025 | Published: 30 August 2016
About the author(s)
Neha R. Kasat, K.E.M. Hospital, IndiaHarick Shah, K.E.M. Hospital, India
Rachana Chhabria, K.E.M. Hospital, India
Nandini Dave, K.E.M. Hospital, India
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Rothmund–Thomson syndrome (RTS) or poikiloderma congenitale is a rare autosomal recessive disorder. Approximately 300 cases of this syndrome have been reported in the scientific literature worldwide. This study reports the case of an 11-year old female child with RTS undergoing diagnostic oesophago-gastro-duodeno (OGD) scopy as a result of dysphagia to solids. Adequate knowledge of the condition is needed when planning anaesthesia in such a case as associated anomalies can interfere with anaesthesia management.
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Crossref Citations
1. Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery
Sara Cabete, Sara S Neves, Sónia Duarte
Cureus year: 2025
doi: 10.7759/cureus.95877
2. Perioperative Management in Rothmund–Thomson Syndrome
Ahmed Uslu, Nedim Çekmen
Bali Journal of Anesthesiology vol: 7 issue: 1 first page: 43 year: 2023
doi: 10.4103/bjoa.bjoa_244_22
