Abstract
abstract
Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity cases are caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.
- 1. Lamberti PM, Light TR. Madelung deformity. Available at: http//www.emedicinc.com/orthopea7topic5l3.htm. Accessed October 15. 2002. Google Scholar
- 2. Jobe MT, Wright PE II. Congenital Anomalies of Hand. In: Canale T, ed. Campbelll's Operative Orthopaedics. 9th ed. St Louis, Mo: Mosby Ine; 1998:3816-3818. Google Scholar
- 3. Dannenberg M, Anton JI, Spiegel MB. Madelung's deformity. American Journal of Roentgenology Radium Therapy and Nuclear Medicine. 1939:42:671-676. Google Scholar
- 4. Carter PR, Ezaki M: Madelung's deformity. Surgical correction through the anterior approach. Hand Clin. 2000; 16:713-721. Google Scholar
- 5. Herdman RC, Langer LO, Good RA. Dyschondrosteosis. The most common cause of Madelung's deformity. J Pediatr. 1966; 68:432-441. Google Scholar
- 6. Munns CF, Glass IA, LaBrom R, et al. Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. Hand Surg. 2001; 6:13-23. Google Scholar
- 7. Beim V, Cusin V, Girlich D, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet. 1998; 19:67-69. Google Scholar
- 8. Shears DJ, Vassal HJ, Goodman FR, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet. 1998; 19:70-73. Google Scholar
- 9. Ross JL, Scott C Jr, Marnila P, et al. Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab. 2001; 86:5674-5680. Google Scholar
- 10. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997; 16:54-63. Google Scholar
- 11. loan DM, Maximilian C, Fryns JP. Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome. Genet Counsel. 1992; 3:25-29. Google Scholar
- 12. Funderburk SJ, Smith L, Falk RE, Bergstein JM, Winter H. A family with concurrente mesomelic shortening and hereditary nephritis. Birth Defects Orig Artic Ser. 1976: 6:47-61. Google Scholar
- 13. Kapur S, Swinford A, Freimanis AK, Lachman RS. Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies. Am J Med Genet. 1989; 33:357-363. Google Scholar
- 14. Cirillo Silengo M, Lopez Bell G, Biagioli M. Guala A. Porcellini G, Franceschini P. A new syndrome with ocular, skeletal and renal involvement. Pediatr Radiol. 1987; 17:238-241. Google Scholar
- 15. Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML. Morrison S. Clinical and locus heterogeneity in brachydactyly type C. Am J Med Genet. 1997:68:369-377. Google Scholar
- 16. Burgess RC, Cates H. Deformities of the forearm in patients who have multiple cartilaginous exostoses. J Bone Joint Surg Am. 1993;75:13-18. Google Scholar
- 17. Vickers D, Nielsen G. Madelung deformity: surgical prophylaxis (physiolysis) during the late growth period by resection of the dyschondrosteosis lesion. J Hand Surg Br. 1992; 17:401-407. Google Scholar
- 18. Kosho T. Muroya K, Nagai T. el al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implicaUons for the development of Turner syndrome. J Clin Endocrinol Metab. 1999: 84:4613-4621. Google Scholar
- 19. Clement-Jones M. Schiller S, Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000; 9:695-702. Google Scholar
- 20. Luchetti R, Mingione A, Monteleone M, Cristiani G. Carpal tunnel syndrome in Madelung's deformity. J Hand Surg. 1988; 13:19-22. Google Scholar
- 21. Blethen SL. Rundle AC. Slipped capital femoral epiphysis in children treated with growth hormone. A summary of the National Cooperative Growth Study experience. Horm Res. 1996;46:113-116. Google Scholar
- 22. Ogata T. Matsuo N, Nishimura G. SHOX haploinsufficiency and overdosage: impact of gonadal funcdon status. J Med Genet. 2001; 38:1-6. Google Scholar
- 23. Flanagan SF, Munns CF, Hayes M, et al. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet. 2002; 39:758-763. Google Scholar

