Publication:
Undiagnosed Case of Klippel-Trenaunnay Syndrome Presenting as Extensive Heterotrophic Ossification and Flexion Deformity of Right Lower Limb Requiring Amputation : A Case Report

creativeworkseries.issnJNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X
dc.contributor.authorGautam, Kushal
dc.contributor.authorThapa, Sangharsha
dc.contributor.authorTwayana, Anu Radha
dc.contributor.authorChhantyal, Lokendra
dc.contributor.authorPoudel, Puskar
dc.contributor.authorKC, Avinash
dc.contributor.authorChand, Swati
dc.date.accessioned2026-02-17T05:41:33Z
dc.date.available2026-02-17T05:41:33Z
dc.date.issued2021
dc.descriptionKushal Gautam Department of Paediatric Research, Patan Hospital, Lagankhel, Nepal Sangharsha Thapa Kathmandu University School of Medical Sciences, Dhulikhel, Kavrepalanchowk, Nepal Anu Radha Twayana Kathmandu University School of Medical Sciences, Dhulikhel, Kavrepalanchowk, Nepal Lokendra Chhantyal Charak Memorial Hospital, Pokhara, Nepal Puskar Poudel Matri Shishu Hospital, Pokhara, Nepal Avinash KC Green Pastures Hospital, Pokhara, Nepal Swati Chand Department of Internal Medicine, Rochester General Hospital, Rochester, USA
dc.description.abstractAbstract: Klippel-Trenaunnay Syndrome is a rare disease characterized by a clinical triad of capillary malformation, soft tissue and bony hypertrophy, and atypical varicosity. This syndrome ranges from asymptomatic disease to life-threatening bleeding, embolism, and deformities. Management includes early diagnosis, prevention, and treatment of complications. We present a case of a 43-year-old male presenting with pain, swelling and deformity of the right leg for 30 years. On examination, diffusely enlarged tender right limb with several dark patchy discolorations, multiple tortuous vessels were found. Right leg X-ray showed heterotrophic ossification and distortion of ankle joint. Due to chronic severe pain, recurrent infection, contracture and flexion deformity of right leg, the patient underwent above knee amputation. This case focuses on the variable presentation and multiple problems faced by patients with Klippel-Trenaununay Syndrome as they get diagnosed late and shows the importance of high index of suspicion for early diagnosis and prevention of complications.
dc.identifierhttps://doi.org/10.31729/jnma.6932
dc.identifier.urihttps://hdl.handle.net/20.500.14572/4800
dc.language.isoen_US
dc.publisherNepal Medical Association
dc.subjectflexion deformity
dc.subjectheterotrophic ossification
dc.subjectKlippel -Trenanunay syndrome
dc.subjectvascular malformation
dc.titleUndiagnosed Case of Klippel-Trenaunnay Syndrome Presenting as Extensive Heterotrophic Ossification and Flexion Deformity of Right Lower Limb Requiring Amputation : A Case Report
dc.typeArticle
dspace.entity.typePublication
local.article.typeCase Report
oaire.citation.endPage941
oaire.citation.startPage938
relation.isJournalIssueOfPublication0e66f2c1-5ba7-4efc-b90b-a0cf40ce18b8
relation.isJournalIssueOfPublication.latestForDiscovery0e66f2c1-5ba7-4efc-b90b-a0cf40ce18b8
relation.isJournalOfPublicatione6e146a0-0ece-4aba-aa0a-6ccfbd10a12a

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