Léri-Weill dyschondrosteosis: importance of physical examination
DOI:
https://doi.org/10.15448/1980-6108.2016.1.22406Keywords:
Léri-Weill Dyscondrosteosis, Madelung deformity, SHOX gene, body dysmorphic disorders, genetic diseases, inborn, failure to thrive, body height.Abstract
Aims: To report a case of Léri-Weill dyschondrosteosis, a rare hereditary bone dysplasia often associated with a haploinsufficiency of the SHOX (short stature homeobox-containing) gene.
Case description: A three-year-old female had sought medical care for hypertension. Irrelevant personal and family background. The physical examination showed dysmorphic aspect with shortening of arms and legs, small hands and feet, and short neck. Hypertension was not confirmed. Genetic study for chromosomal deletion syndromes revealed mutations in the SHOX gene compatible with Léri-Weill dyschondrosteosis.
Conclusions: Physical examination is essential in clinical practice, allowing the identification of major changes that are not always the reason for the medical appointment. Early diagnosis and proper guidance are essential in Léri-Weill dyschondrosteosis, especially because of its therapeutic implications. The outcome is favorable if the disorder is treated with growth hormone therapy.
Downloads
References
Llano-Rivas I, Fernández-Toral J, Navarro-Vera I. Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expressividade variable. AN Pediatr (Barc). 2011;74(6):405-8. http://dx.doi.org/10.1016/j.anpedi.2011.01.005
Martins R, Ramos H, Llerena J, Almeida J. Investigação clínica e genética em meninas com baixa estatura idiopática. Arq Bras Endocrinol Metab. 2003;47(6):684-94. http://dx.doi.org/10.1590/S0004-27302003000600010
Jorge AA1, Funari MF, Nishi MY, Mendonca BB. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85.
World Health Organization. Child growth standards [Internet]. 2016 [cited 2016]. Available from: http://www.who.int/childgrowth/standards/height_for_age/en/
Binder G. Short stature due to SOHX deficiency: genotype, phenotype and therapy. Horm Res Paediatr. 2011 Feb;75(2):81-9. http://dx.doi.org/10.1159/000324105
Iughetti L, Madeo S, Predieri B. Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency. J Endocrinol Invest. 2010 Jun;33(6 Suppl):34-8.
Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA. Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency. J Pediatr Endocrinol Metab. 2003 Sep;16(7):997-1004. http://dx.doi.org/10.1515/JPEM.2003.16.7.997
Downloads
Published
How to Cite
Issue
Section
License
Copyright
The submission of originals to Scientia Medica implies the transfer by the authors of the right for publication. Authors retain copyright and grant the journal right of first publication. If the authors wish to include the same data into another publication, they must cite Scientia Medica as the site of original publication.
Creative Commons License
Except where otherwise specified, material published in this journal is licensed under a Creative Commons Attribution 4.0 International license, which allows unrestricted use, distribution and reproduction in any medium, provided the original publication is correctly cited.
