2019, Number 1
Spondylometaphyseal dysplasia type Kozlowski
Language: Spanish
References: 9
Page: 1-8
PDF size: 291.10 Kb.
ABSTRACT
Introduction: Spondylometaphyseal dysplasia is an infrequent bone dysplasia. Kozlowski type is the most common form, with an autosomal dominant hereditary character. It is characterized by scoliosis, platyspondyly, and metaphyseal lesions of the long bones. Presents itself a case evaluated in rehabilitation consultation with short stature, shortening of long bones, radiological alterations in the spine, bilateral contracture of hips and knees and equinus foot.Objective: To describe an experience in the rehabilitation of Kozlowski-type spondylometaphysial dysplasia.
Case report: This patient was assessed at a rehabilitation clinic. He is short, and shoed shortening of his long bones, radiological alterations in the spine, bilateral contraction of the hips and knees and equinovarian foot. He evolved favorably during the rehabilitation treatment; he gradually improved his joint balance of upper and lower limbs, muscle tone and motor function in general.
Conclusions: The clinical, radiological and genetic evaluation is fundamental in spondylometaphyseal dysplasia in order to achieve an accurate classification and diagnosis in the interest of initiating early multidisciplinary treatment that allows to enhance the functional abilities of the patient.
REFERENCES
Hines SL, Richter JE Jr, Mohammad AN, Mahim J, Atwal PS, Caulfield TR. Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia. Mol Genet Genomic Med. 2019 [acceso: 05/04/2019]; 7(3):e566. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418443/
Diez López I, Rodríguez Estévez A, Marí Gonzalo A, Santolaya Jiménez JM. Displasia espondilometafisaria tipo Kozlowski detectada en baja talla familiar. Bol Pediatr. 2008 [acceso: 08/03/2018]; 48:52-5. Disponible en: https://docplayer.es/55276950-Casosclinicos- displasia-espondilometafisaria-tipo-kozlowski-detectada-en-talla-baja-familiarintroduccion- resumen.html
Bieganski T, Beighton P, Lukaszewski M, Bik K, Kuszel L, Wasilewska E, Kozlowski K, Czarny-Ratajczak M. El tipo de Kozlowski SMD causado por la sustitución de p. Arg594 His en TRPV4 revela una osificación anormal y restos notocordales en discos y vértebras. Eur J Med Genet. 2017 [acceso: 05/04/2019]; 60 (10):509-16. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785083/
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 [acceso: 08/03/2018]; 84(3):307-15. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667978/