A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. Post natal growth deficiency: microcephaly, profound mental retardation. Craniofacial defects: micrognathia, ear abnormalities, anteverted nares, wrinkling of forehead, bitemporal growing of high forehead. Neurological abnormalities: opisthotonos, epilepsy, initial hypotonia. The literature is reviewed.
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| http://dx.doi.org/10.1111/j.1365-2788.1989.tb01475.x | DOI Listing |
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