Palavras-chave
cromosoma X
hipotonía muscular
Como Citar
Resumo
El síndrome de Coffin-Lowry es una enfermedad genética ligada al cromosoma X, caracterizada por múltiples deformidades esqueléticas, talla baja, retraso en el desarrollo neurológico, además de alteraciones renales, auditivas y otras. Si no se detecta y trata en forma temprana, lleva al paciente a pérdida de la audición neurosensorial y deformidad progresiva de la columna vertebral.
Se presenta el caso de un niño de 10 años con los hallazgos clínicos característicos del síndrome de Coffin-Lowry: hipotonía, retardo del crecimiento y del desarrollo psicomotor, y deformidades esqueléticas progresivas.
Se resalta la importancia de un diagnóstico precoz para mejorar la calidad de vida del paciente, controlando la pérdida de la audición neurosensorial y la deformidad progresiva de la columna vertebral (escoliosis o cifosis).
Aravena T, Castillos, Villaseca C. Síndrome de Coffin siris: casos clínicos y revisión de la literatura. Rev Chil Pediatr. 2001;72:224-9.
Coffin GS, Siris E, Wegenkia LC. Mental retardation with osteocartilaginous anomalies. Am J Dis Child. 1966; 112:205-13.
Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome. Am J Dis Child. 1971;121:496- 500.
Temtamy SA, Miller JD, Hussels- Maumenee I. The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. J Pediatric. 1975;86:724-31.
Hanauer A, Young ID. Coffin-Lowry syndrome: Clinical and molecular features. J Med Genet. 2002;39:705-13.
Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, et al. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet. 2006;70:509-15.
Guitti JCS, Peres FF. Coffin-Lowry syndrome: Mental retardation, skeletal anomalies, dental abnormalities. J Pediatr. (Rio de Janeiro). 2000; 76:305-9.
Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coëslier A, et al. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. J Med Genet. 1999;26:775-8.
Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. J Pediatric Orthop. 2007;27:85-9.
Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Cognitive function in Coffin-Lowry syndrome. Clin Genet. 2002;61:299-304.
Hanauer A. Coffin-Lowry syndrome. Orphanet Encyclopedia; 2001. Fecha de consulta: julio 06 del 2009. Disponible en: http://www.orpha.net/data/patho/GB/uk-coffin.pdf.
López-Jiménez J, Giménez-Prat MJ. Síndrome de Coffin-Lowry, características odontológicas. Revisión de la literatura y presentación de un caso clínico. Med Oral. 2003;8:51-6.
Massin MM, Radermecker MA, Verloes A, Jacquot S, Grenade TH. Cardiac involvement in Coffin-Lowry syndrome. Acta Pediatrics. 1999;88:468-70.
This journal is registered under a Creative Commons Attribution 4.0 International Public License. Thus, this work may be reproduced, distributed, and publicly shared in digital format, as long as the names of the authors and Pontificia Universidad Javeriana are acknowledged. Others are allowed to quote, adapt, transform, auto-archive, republish, and create based on this material, for any purpose (even commercial ones), provided the authorship is duly acknowledged, a link to the original work is provided, and it is specified if changes have been made. Pontificia Universidad Javeriana does not hold the rights of published works and the authors are solely responsible for the contents of their works; they keep the moral, intellectual, privacy, and publicity rights.
Approving the intervention of the work (review, copy-editing, translation, layout) and the following outreach, are granted through an use license and not through an assignment of rights. This means the journal and Pontificia Universidad Javeriana cannot be held responsible for any ethical malpractice by the authors. As a consequence of the protection granted by the use license, the journal is not required to publish recantations or modify information already published, unless the errata stems from the editorial management process. Publishing contents in this journal does not generate royalties for contributors.