Working Diagnosis:
Congenital Madelung Deformity
Distal radial physeal stress injury

Treatment:
Staged bilateral ulnar shortening and radial dome osteotomies.

Outcome:
The patient return to full activities including gymnastics at her three month follow-up. The hardware was removed nine months post-operatively and she was able to return to full activities six weeks after hardware removal. At follow-up four months later she was pain free during practice and daily activities. Medical genetics was suspicious for Leri-Weill dyschondrosteosis and she and her parents decided not to pursue genetic testing.

Author's Comments:
True Madelung deformity is a congenital deformity of the wrist that can occur in isolation or in association with Leri-Weill dyschondrosteosis. It forms as a result of premature closure of the medial aspect of the distal radial growth plate. This is due to the presence of an abnormal ligament that runs from the metaphysis of the radius to the lunate termed the Vicker's ligament. This ligament is what differentiates true Madelung deformity from Madelung-like deformity which has been reported in high level gymnasts. Madelung deformity is a rare congenital deformity with little to no data on optimal treatment or return to sport. Generally surgical treatment is warranted if a patient is symptomatic or wishes to return to high level sport.

Editor's Comments:
The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of SHOX haploinsufficiency could be advantageous to early diagnosis and treatment. In individuals with short stature and Madelung Deformity, the deletion detection rate was 37.5%, i.e. Leri-Weill dyschondrosteosis syndrome (LWS). Thus, individuals with Madelung Deformity and short stature should be evaluated by genetics for LWS and appropriate treatment such as growth hormone or insulin-like growth factor 1 should be administered if warranted.

References:
1. Wolf MR, Avery D, Wolf JM. Upper extremity injuries in gymnasts. Hand Clin. 2017;33(1):187-197.
2. Ghatan AC, Hanel DP. Madelung deformity. J Am Acad Orthop Surg. 2013;21(6):372-382.
3. Ali S, Kaplan S, Kaufman T, Fenerty S, et al. Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol. 2015;45(12):1856-1863.
4. Brooks, TJ. Madelung deformity in a collegiate gymnast: a case report. J Athl Train. 2001;36(2):170-173.
5. Kernaz, E, et al. "SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics." J Pediatr Endocrinol Metab. 2018 Oct 17.

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