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.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/ajmg.1320320209 | DOI Listing |
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!