Megalocornea and mental retardation syndrome: two new cases.
We report on 2 patients with the Neuhäuser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.
D002648:Child; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome