Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome.

OBJECTIVE

To determine the frequency of sporadic and familial cases of three classic phenotypes associated with Holt-Oran syndrome (HOS).

STUDY

DESIGN

We determined the frequency of sporadic and familial cases based on the 179 patients with HOS reported in the literature.

RESULTS

Clinically, there are three variations of HOS: affected individuals may have only skeletal anomalies (27.4%), only cardiac defects (3.9%) or both (68.7%). Of the 179 affected individuals, 17.3% had sporadic and 82.7% had familial disease.

CONCLUSION

The equal distribution between the sexes (female 53%, male 47%) indicates that HOS is transmitted as an autosomal dominant trait. In contrast to familial cases, cardiac involvement alone was not reported in any of the sporadic cases. When a cardiac malformation is diagnosed, the family members of the affected individual should be carefully screened for Holt-Oram syndrome.