hrp0084p2-454 | Growth | ESPE2015

Growth Pattern in Children Affected of Lowe Syndrome – Descriptive Multicentre International Study: Preliminary Data

Suarez-Ortega Larisa , Roman Anna Casteras , Loranca Marisa , del Pozo Jaime Sanchez , Group Rare Commons

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...