June 1971

Holt-Oram Syndrome Associated With Ectromelia and Chromosomal Aberrations

Author Affiliations

Cracow, Poland
From the IInd Pediatric Clinic; the departments of radiology and biochemistry, and the Polyclinic of the Institute of Pediatrics of the Medical Academy, Cracow, Poland.

Am J Dis Child. 1971;121(6):490-495. doi:10.1001/archpedi.1971.02100170072008

We observed three siblings with ectromelia of the upper extremities and the HoltOram syndrome. Manifestations of this syndrome were present in nine persons in four generations of the family. Partial deletion of the long arm of a B group chromosome was found in two siblings. The abnormal length of the B group chromosomes in one child and the father could be estimated only after measurements. These changes may be derived from a different degree of spiralization of the paired chromosomes, but they may be caused by a loss of chromatin. The osseous anomalies in our patients are probably related to the chromosomal structural changes.