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Revista de la Asociación Argentina de Ortopedia y Traumatología
versão On-line ISSN 1852-7434
Resumo
SUAREZ ZARRATE, Jessica A; ARIAS ARGUELLO, Ricardo e RODRIGUEZ SERNA, Sebastián. Síndrome de Grebe: Reporte de un caso. Rev. Asoc. Argent. Ortop. Traumatol. [online]. 2018, vol.83, n.1, pp.50-53. ISSN 1852-7434.
Grebe syndrome is a rare autosomal recessive disorder that belongs to the group of osteochondrodysplasias. Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs. Recognition of this syndrome allows to give better diagnoses and to establish a differential diagnosis with more common pathologies, such as achondroplasia. We present a 35-year-old woman with diagnosis of Grebe syndrome at the age of 10. Grebe syndrome has a very low incidence; therefore, it is unknown by general physicians and still less by orthopedic surgeons, who will treat these patients.
Palavras-chave : Grebe syndrome; Osteochondrodysplasia; Dysplasia; Acromesomelic.