Toriello-Carey syndrome in a Turkish newborn.
Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe the findings in a Turkish newborn, presumed to be another example of the Toriello-Carey syndrome, which extends the phenotype of the syndrome.
Division of Neonatology, Zekai Tahir Burak Women's Education and Research Hospital, Ankara, Turkey. nurdanuras@yahoo.com
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Uras
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Sandal
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Oguz
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Aydemir
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Erdeve
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Dilmen
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D055673:Acrocallosal Syndrome / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004453:Echoencephalography; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014421:Turkey