Síndrome de Robinow. Relato de caso y revisión de la literatura

Abstract

Introduction: Robinow Syndrome (RS), first described in 1969, is an autosomal syndrome with predominance in the recessive inheritance, also the most severe, rare character, with just over 100 cases reported in the literature. Case report: In the present work, we report the case of a male patient of 21 years, suffering from mental retardation, epilepsy and bone malformation in the upper limbs with fusion of radius and ulna. Conclusions: Characterized by short stature and abnormalities in the head,face, external genitalia and vertebral segmentation defects, presents a diagnosis with great difficulties.