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Revista Cubana de Reumatología

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2020, Number 2

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Rev Cub de Reu 2020; 22 (2)

Madelung deformity: a case presentation

Domínguez RBZ, Wainshtok TDM, Herrera WAC, González VN, López RI, Viera GM
Full text How to cite this article

Language: Spanish
References: 8
Page: 1-11
PDF size: 366.21 Kb.


Key words:

madelung deformity, wrist deformity, radius and ulna, SHOX gene mutations.

ABSTRACT

Madelung's deformity is a rare alteration of the wrist joint. It is linked to mutations of the SHOX gene. It is characterized by alterations in the radius, carpus and ulna, predominantly bilateral. It mainly affects female patients; signs and symptoms are evident at the beginning of adolescence. To present a case of a patient with a diagnosis of Madelung deformity. The case of a 15-year-old female patient with a health history and family history of interest of an equine clubfoot father is presented. When she entered adolescence, she began to present deformity in both wrists, more marked in the right side accompanied by pain. This is a patient with a Madelung deformity. The diagnosis was concluded by the clinic associated with the positivity of the imaging studies.


REFERENCES

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  2. Ramírez Portilla CC, Ramírez Guamán RM, Miranda Pareja MB, Espinoza Ramírez RA, Landívar Varas XF. Deformidad de Madelung: Presentación de un caso. Actual Osteol. 2017 [Acceso 14/11/2019];13(2):177-82. Disponible en: http://www.osteologia.org.ar › files › pdf › rid54_177-182-ost1-7-madelung-d. pdf

  3. Zepeda Rodríguez JJ, Basurto Kuba EO, Carpinteyro Espín U, Bustos Lozano MA. Enfermedad de Madelung. Anales Médicos ABC. 2017 [Acceso 14/11/2019];62(2):149-53. Disponible en: https://www.medigraphic.com/pdfs/abc/bc-2017/bc172n.pdf/

  4. Saavedra H, Ríos D, Díaz JJ. Deformidad de Madelung: Criterios actuales en radiografía simple. Rev Chil Radiol. 2015 [Acceso 08/11/2019];21(1):18-21. Disponible en: http://dx.doi.org/10.4067/S0717-93082015000100005

  5. Greenspan A. Anomalías de las extremidades superiores e inferiores, Deformidad de Madelung. En: Radiología de huesos y articulaciones. 2.ª ed. Barcelona: Ed. Marban; 2006. p. 891-3.

  6. Samaniego Vásquez KM, Ramírez Motoche ND, Loayza Sivisaca LE, Castillo Apolo LE, Ordóñez Betancourth MA. Malformación de Madelung, reporte de caso. Revista Médica. 2019 [Acceso 08/11/2019]. Disponible en: https://revistamedica.com/malformacion-de-madelung-reporte-de-caso-ecuador/

  7. Sifuentes Giraldo WA, Gámir Gámir ML. Deformidad de Madelung adquirida en la artritis idiopática juvenil poliarticular con factor. Reumatología Clínica. 2014 [Acceso 08/11/2019];10(4):266-7. Disponible en: https://www.clinicalkey.es/service/content/pdf/watermarked/1-s2.0-S1699258X13002246.pdf?locale=es_ES&searchIndex=

  8. Mei L, Huang Y, Pan Q, et al. Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. J Genet. 2014 [Acceso 08/11/2019];93(3):809-12. Disponible en: https://www.ncbi.nlm.nih.gov › pubmed




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Rev Cub de Reu. 2020;22