Case Report: Osteodysplastic Gerodermia in Panama

ABSTRACT: Gerodermia osteodysplastica (GO) is a rare genetic disease in which the inheritance is autosomal recessive within Cutis laxa disorders, it is characterized by a lax and wrinkled skin, osteoporosis leading to spontaneous fractures, congenital dislocation of the hips, hyperextensible joints, progeroid features, developmental delay and intellectual deficit. This is a condition caused by genetic mutations in the GORAB gene (1q24.2). We present the case of a 3-month-old infant with the typical phenotype of this condition, lax and wrinkled skin, specially the hands and feet, in addition to a knee dislocation. A panel testing for connective tissue disorders was performed, which identified an alteration in the GORAB gene, confirming the diagnosis de Gerodermia osteodysplastica.