Format

Send to

Choose Destination
Am J Med Genet. 1989 Feb;32(2):184-6.

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

Author information

1
Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas.

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.

PMID:
2929657
DOI:
10.1002/ajmg.1320320209
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center