American Journal of Medical Genetics 27933 (1987)

Letter to the Editor: Branchio-Oto-Renal Syndrome: Reduced Penetrance and Variable Expressivity in Four Generations of a Large Kindred

To the Editor:

Heimler and Lieber [1986] reported on a large family, in which many persons had varying manifestations of the branchio-oto-renal (BOR) syndrome. We note with interest that one individual (IV-29) had all of the manifestations of the syndrome in addition to a mild form of hemifacial microsomia (HFM). We reported several families in which varying aspects of the BOR syndrome occurred in association with HFM [Rollnick and Kaye, 19851. We postulated that in some families HFM may represent a component of the BOR syndrome, and the recurrence risk in these families may be as high as 50%. The family studied by Heimler and Lieber provides further evidence to support this postulate and reemphasizes the need for careful evaluation of relatives to exclude both conditions.

REFERENCES

Heimler A, Lieber E (1986): Branchio-oto-renal syndrome: Reduced penetrance and variable expressiv-

Rollnick BR, Kaye CI (1985): Hemifacial microsomia and the branchio-oto-renal syndrome. J Craniofac ity in four generations of a large kindred. Am J Med Genet 25: 15-27

Genet Develop Biol Suppl 1:287-295.

Beverly R. Rollnick Celia I. Kaye Center for Craniufacial

Anomalies University of Illinois-College

of Medicine (B. R. R . ) Chicago, Illinois Lutheran General Hospital

Park Ridge, Illinois (C. I. K.)

Edited by John M. Opitz

Received for publication September 15, 1986.

0 1987 Alan R. Liss, Inc.