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  • Title: A new syndrome with distinct facial and auricular malformations and dominant inheritance.
    Author: Simosa V, Penchaszadeh VB, Bustos T.
    Journal: Am J Med Genet; 1989 Feb; 32(2):184-6. PubMed ID: 2929657.
    Abstract:
    We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
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