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

Am J Med Genet. 1989 Feb;32(2):184-6. doi: 10.1002/ajmg.1320320209.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Ear, External / abnormalities*
  • Facial Bones / abnormalities*
  • Female
  • Follow-Up Studies
  • Genes, Dominant*
  • Humans
  • Male
  • Phenotype
  • Syndrome