Santana HEE, González AAM

Idioma: Español
Referencias bibliográficas: 11
Paginas: 111-119
Archivo PDF: 225.21 Kb.

RESUMEN

Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia.
Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia.
Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia.
Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, et al. Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis. Front. endocrinol. (Lausanne) [Internet]. 2018 [cited 2019 Oct 20];9(163):1-5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902492/

2. Salvi AE, Livani B, Florschutz AV. Clinical image of bilateral Madelung deformity. ANZ J Surg [Internet]. 2018 Mar [cited 2019 Oct 20];88(3):E220-E221. Available from: https://onlinelibrary.wiley.com/doi/epdf/10.1111/ans.13335

3. Hisado-Oliva A, Garre-Vázquez AI, Santaolalla-Caballero F, Belinchón A, Barreda-Bonis AC, Vasques GA, et al. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis. J Clin Endocrinol Metab [Internet]. 2015 [cited 2019 Sep 20];100(8):E1133-1142. Available from: https://academic.oup.com/jcem/article/100/8/E1133/2836048

4. Depeyre A, Schlund M, Nicot R, Ferri J. Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis. J Oral Maxillofac Surg [Internet]. 2019 [cited 2019 Dec 10];77(4):762-8. Available from: https://www.clinicalkey.es/#!/content/playContent/1-s2.0-S0278239118312059?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0278239118312059%3Fshowall%3Dtrue&referrer=

5. Hirschfeldova K, Solc R. Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample. Gene [Internet]. 2017 [cited 2019 Oct 20];627:164-8. Available from: https://www.researchgate.net/publication/317641171_Comparison_of_SHOX_and_associated_elements_duplications_distribution_between_patients_Leri-Weill_dyschondrosteosisidiopathic_short_stature_and_population_sample

6. Alexandrou A, Papaevripidou I, Tsangaras K, Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, et al. Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. J. genet. [Internet]. 2016 [cited 2019 Ago 20];95(4):839-45. Available from: https://www.researchgate.net/publication/309519401_Identification_of_a_novel_155_kb_SHOX_deletion_associated_with_marked_intrafamilial_phenotypic_variability_and_analysis_of_its_molecular_origin

7. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, et al. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet [Internet]. 2016 [cited 2019 Sep 20];61(7):585-91. Available from: https://www.researchgate.net/publication/298798095_Systematic_molecular_analyses_of_SHOX_in_Japanese_patients_with_idiopathic_short_stature_and_Leri-Weill_dyschondrosteosis

8. Bunyan DJ, Baffico M, Capone L, Vannelli S, Iughetti L, Schmitt S, et al. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. Am. J. Med. Genet. A [Internet]. 2016 Apr [cited 2019 May 19];170(4):949-57. Available from: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.37524

9. Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A [Internet]. 2019 [cited 2019 Dec 10];179(9):1778-1782. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61275

10. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, et al. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet [Internet]. 2016 [cited 2019 Sep 20];61(7):585-91. Available from: https://www.nature.com/articles/jhg201618?draft=collection

11. Al Kaissi A, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG. Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan. Medicines (Basel) [Internet]. 2019 [cited 2019 Dec 10];6(2):60. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631815/