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A truly encyclopedic reference work, well described by its subtitle, covering genetic and acquired (in utero) anomalies, dysmorphias, disorders, and diseases apparent prenatally or at birth. The entries are arranged alphabetically by the principal term for the defect. A typical entry includes information on synonyms, terms representing potential differential diagnoses, major diagnostic criteria, clinical findings, complications associated with findings, causation, pathogenesis, the numbers for corresponding entries in McKusick's great catalog, Mendelian inheritance in man, sex ratio, occurrence, risk of recurrence in a sibling or in the patient's children, age of detectability, gene mapping and linkage, prevention, treatment, prognosis, detection of
Birth Defects Encyclopedia: The Comprehensive, Systematic, Illustrated Reference Source for the Diagnosis, Prevention, and Treatment of Human Anomalies of Clinical Relevance. Ann Intern Med. 1991;115:72–73. doi: https://doi.org/10.7326/0003-4819-115-1-72_4
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Published: Ann Intern Med. 1991;115(1):72-73.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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