Management of an Ulnar Nonunion in a Pediatric Case with Rothmund-Thompson Syndrome

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma, short stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. While numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, nonunion cases are rarely reported in the literature. Case report: In this study, we present the case of a patient with RTS who sustained a combined ulna and radius fracture in the proximal forearm after a simple fall. The patient was followed for four months with titanium elastic nails, but despite union of the radius, nonunion of the ulna was observed. A second trauma later resulted in re-displacement of the old fracture line of the ulna. The patient subsequently underwent stable fixation with plate and screw fixation, received additional medical treatment, and union was achieved. Conclusion: With our report, we hope to increase practitioner awareness that delayed bone healing may be a possibility in RTS patients and to encourage consideration of routine imaging and calcium and vitamin D supplementation.

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Publication Details

Journal
Journal of Emergency Medicine Case Reports
Published
2026-06-30
DOI
https://doi.org/10.33706/jemcr.1831588
Primary Topic
Congenital limb and hand anomalies
Type
article
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article

Management of an Ulnar Nonunion in a Pediatric Case with Rothmund-Thompson Syndrome

Ahmet Berkay Girgin, Ahmet Acar
Journal of Emergency Medicine Case Reports
Congenital limb and hand anomalies
article

Management of an Ulnar Nonunion in a Pediatric Case with Rothmund-Thompson Syndrome

Ahmet Berkay Girgin, Ahmet Acar
article en

Abstract

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma, short stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. While numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, nonunion cases are rarely reported in the literature. Case report: In this study, we present the case of a patient with RTS who sustained a combined ulna and radius fracture in the proximal forearm after a simple fall. The patient was followed for four months with titanium elastic nails, but despite union of the radius, nonunion of the ulna was observed. A second trauma later resulted in re-displacement of the old fracture line of the ulna. The patient subsequently underwent stable fixation with plate and screw fixation, received additional medical treatment, and union was achieved. Conclusion: With our report, we hope to increase practitioner awareness that delayed bone healing may be a possibility in RTS patients and to encourage consideration of routine imaging and calcium and vitamin D supplementation.

Journal of Emergency Medicine Case ReportsVol. 17(2)
Good health and well-being
Openalex Percentile: Top 10%
Congenital limb and hand anomalies
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