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skos:definition |
JABL: A congenital syndrome with symptoms similar to those produced by aminopterin (a methotrexate methyl derivative) in early pregnancy, but without any evidence of maternal exposure to the substance. The principal characteristics include mineralization defects of the cranial vault, abnormal hairline, upslanted palpebral fissures, malar hypoplasia, highly arched palate, micrognathia, abnormal ear auricles, heart defects, minor hand anomalies, and mental deficiency.
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