Occurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification

• DOI: 10.1007/s43465-025-01359-9
• Publication Date: 2025-03-22T22:47:31Z
• Authors: Lisa-Marie Seeor; Albert Fujak; Chakravarthy U. D...

Abstract

Background Tibial hemimelia is a rare malformation with a wide clinical spectrum of presentation. The severity of this condition can be typed using different classification systems. It can exist as an independent entity or can be associated with upper limb or visceral malformations. The aims of our study are therefore, a. to report the incidence of upper limb deformities in relation to the severity of tibial hemimelia classified by the Jones classification, b. incidence of tibial hemimelia as a part of a syndrome c. to report the overall incidence of the associated upper limb and visceral deformities.

Methods A retrospective study was done using radiographs and clinical notes. The severity of the tibia deformity was assessed using the Jones classification. The clinical notes were reviewed to report the additional findings in the upper limbs and the visceral organs.

Results The study included 69 patients with tibial hemimelia aged from 10 months to 34 years. Twenty of them (28.9%) had bilateral involvement. Additional malformations were observed in 56 patients (81%) involving the upper and lower limb and visceral organs. In 11 patients (16%), tibial hemimelia occurred as part of a syndrome, most often being Gollop–Wolfgang complex. The incidence of malformations of the upper extremities was 15 (21.7%), four of which (26.6%) involved bilateral upper extremity malformation. The cleft hand was the most frequent malformation of the upper extremities, followed by hypoplasia or aplasia of the thumb and fingers.

Conclusion Jones type I tibial hemimelia is often associated with visceral and upper limb malformations. visceral anomalies are associated with syndromal forms of Tibiail hemimelia. Several forms of upper limb malformations with varying severity were associated with the disorder. Therefore, a holistic approach to the patient should be initiated soon after birth involving a paediatric, hand and visceral surgeon, to provide the best possible care.

Level of evidence Level IV study, retrospective review of 69 patients with tibial hemimelia.