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3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia[1] or Ritscher Schinzel syndrome[2], is a rare condition, characterized by cardiac malformation (heart defects), cerebellar hypoplasia and cranial dysmorphism (symptoms involving the brain). 3C syndrome is believed to follow an autosomal recessive pattern of inheritance, though the molecular basis is unknown of.[2] Since it was first reported in 1987 by Ritscher and Schinzel[2] there has been at least 20 individuals with this condition.[3]
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