Megalocornea and mental retardation syndrome: a new case.
We report on a new case of the megalocornea mental retardation syndrome, first described by Neuhäuser et al. [1975]. Our patient had mental and motor retardation, megalocorneae, short stature, congenital hypotonia, frontal bossing, micrognathia, a cafe-au-lait spot, and ear anomalies. A literature survey is provided.
Grønbech-Jensen
M
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Eye Clinic for the Multiply Handicapped, Gentofte, Denmark.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002871:Chromosome Banding; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006306:Health Surveys; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome