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A case of megalocornea–mental retardation syndrome complicated with bilateral sensorineural hearing impairment

249310) is a rare congenital malformation syndrome. Hallmarks of this syndrome include non-progressive bilateral enlargement of the cornea (megalocornea) and mental retardation.1,2 Affected individuals exhibit a variety of abnormalities, such as muscular hypotonia and seizures, facial dysmorphism, joint problems, macrocephaly, and somatic growth retardation. A tentative classification of MMR subtypes (MMR type I–IV) has been proposed by Verloes et al.;1 however, phenotypic overlaps are striking among these patients. We recently treated a Japanese girl with symptoms similar to those of a MMR subset reported by Gibbs et al.2 and Naritomi et al.;3 however, she also showed previously undescribed findings.