The Miller-Dieker syndrome: a case report and review of the literature.
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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Greaves Hall Hospital, Banks, Nr Southport, England.
Parameshwar
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D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D019965:Neurocognitive Disorders / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome