Multiple metaphyseal dysplasia. case report.

Main Article Content

Jennifer Richardson Maturana
Martha E. Oyuela-Mancera
José A. Ovalle-Barranco

Abstract

Background: Multiple metaphyseal dysplasias are low-frequency diseases within the group of bone dysplasias, clinically similar to achondroplasia and rickets. Case report: the case of a five-year-old patient with this disease is presented, considering the clinical, radiological, endocrinological, and genetic evaluation carried out to reach his diagnosis. Conclusions: diagnostic suspicion in a patient with short stature and involvement of the metaphyses of the long bones in the images is critical to the correct identification of this pathology.

Downloads

Download data is not yet available.

Article Details

How to Cite
Richardson Maturana, J., Oyuela-Mancera, M. E., & Ovalle-Barranco, J. A. (2022). Multiple metaphyseal dysplasia. case report . Pediatría, 54(Suplemento 1), 28–32. https://doi.org/10.14295/rp.v54iSuplemento1.373
Section
Case report

References

Santana Hernández E, Tamayo Víctor. Condrodisplasia metafisaria tipo Schmid: presentación de un caso. Scielo. 2015; 19(6): 629-634.

Unanue N, Moënne K, Baar A, Manejo de Displasias Esqueléticas, Revista Médica Clínica Las Condes, 2015; 26(4): 470-482. DOI: https://doi.org/10.1016/j.rmclc.2015.07.005

Lachman RS. Skeletal Dysplasias. En: Slovis TL, ed. Caffey Pediatric Diagnostic Imaging (ed 13a). Filadelfia, Estados Unidos: Elsevier Mosby; 2019.

Alanay Y, Lachman RS. A review of the principles of radiological assesment of skeletal dysplasias. J Clin Res Pediatr Endocrinol 2011; 3(4):163-178. DOI: https://doi.org/10.4274/jcrpe.463

Al Kaissi A, Ghachem M, Nabil N, Kenis V, Melchenki E, Morenko E, y cols. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. Orthop Surg. 2018;10(3):241-246. DOI: https://doi.org/10.1111/os.12382

Reardon W. Skeletal dysplasias detectable by DNA análisis. Prenat Diagn 1996; 16(13):1221-1236. DOI: https://doi.org/10.1002/(SICI)1097-0223(199612)16:13<1221::AID-PD97>3.0.CO;2-E

de França M, de Faria Soares M. F, Luce A, Perrone, E. Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiology case reports. 2020;15(12), 2554–2556. DOI: https://doi.org/10.1016/j.radcr.2020.08.005

Chibuzor MT, Graham-Kalio D, Osaji JO, Meremikwu MM. Vitamin D, calcium or a combination of vitamin D and calcium for the treatment of nutritional rickets in children. Cochrane Database Syst Rev. 2020;4(4):CD012581. DOI: https://doi.org/10.1002/14651858.CD012581.pub2

Pfeiffer KM, Brod M, Smith A, Gianettoni J, Viuff D, Ota S y cols. Assessing physical symptoms, daily functioning, and well-being in children with achondroplasia. Am J Med Genet A. 2021;185(1):33-45. DOI: https://doi.org/10.1002/ajmg.a.61903

Richmond CM, Savarirayan R. Schmid Metaphyseal Chondrodysplasia. 2019 Oct 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.

Ding M, Lu Y, Abbassi S, Li F, Li X, Song Y, Geoffroy V, Im H. J, Zheng, Q. Targeting Runx2 expression in hypertrophic chondrocytes impairs endochondral ossification during early skeletal development. Journal of cellular physiology, 2021;227(10):3446–3456. DOI: https://doi.org/10.1002/jcp.24045

Moffatt P, Amor MB, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber, J. A. FORGE Canada Consortium. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. Am J Hum Genet. 2013; 92(2):252-258. DOI: https://doi.org/10.1016/j.ajhg.2012.12.001

Similar Articles

1 2 3 4 5 6 7 8 9 10 > >> 

You may also start an advanced similarity search for this article.