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Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins

ABSTRACT Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the ROBO3 gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence. One of them also had a congenital palpebral ptosis and vertical strabismus of the right eye. Onset of scoliosis occurred in childhood with rapid progression in the second decade of life. Brain imaging showed characteristic features of the disease such as hypoplasia of the pons and a midline cleft of the brainstem with a butterfly-like bifid appearance. Genetic analysis revealed a pathogenic homozygous mutation on the ROBO3 gene. These siblings and a previous report of two other individuals with the same disorder from the same small geographical region with less than 38000 inhabitants, likely represent a founder effect.