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  • Title: Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?
    Author: Toriello HV, Carey JC.
    Journal: Am J Med Genet; 1988 Sep; 31(1):17-23. PubMed ID: 3223497.
    Abstract:
    We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.
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