A new syndrome with distinct facial and auricular malformations and dominant inheritance.

Am J Med Genet

Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas.

Published: February 1989

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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http://dx.doi.org/10.1002/ajmg.1320320209DOI Listing

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