Miller, MacKusich, Malvaux, name 3M Syndrome, an autosomal recessive disorder expressed mainly by pathogenic variants in 3 genes (CUL7, OBS 1, CCDC8), characterized by growth retardation that can occur from prenatal stages to adult life associated with clinical characteristics such as osteoarticular alterations, craniofacial dysmorphisms, intellectual capacity and normal endocrine function, the diagnosis initially clinical and always associated with low height in the patients who consult, with findings in the genetic profile that show pathogenic variants in genes, CUL7, OBS 1, CCDC8, with the CUL7 gene being the one that reports the most cases.There is no specific treatment for these patients and management is carried out according to associated alterations.We probably describe a unique case of 3M syndrome worldwide found in Barranquilla.Colombia
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Immunodeficiency and Autoimmune Disorders
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FuenteInternational Journal of Science and Research (IJSR)