01 January 2001
Holt-Oram syndrome is also known as the cardiomelic syndrome. As its name suggests it is an inherited syndrome of skeletal anomalies associated with congenital cardiac defects.The condition is inherited in autosomal dominant fashion and there is wide variation in expression. Skeletal anomalies involve the upper limb and shoulder girdle and can range in severity from phocomelia to the most minor thumb anomaly detectable only on X-ray. The scapula, clavicle and sternum as well as the bones of the upper limb may all be affected.
The commonest cardiac lesions are atrial septal defect (ASD) and ventricular septal defect (VSD).
There is no correlation between the severity of the skeletal and cardiac abnormalities.
Because of the variability of expression of the condition, at-risk individuals should have upper limb X-rays as well as echocardiography to confirm their status.
Title: Diagnosis of familial Holt-Oram syndrome (German)
Author: Lehner R, Wenzl R, Vanura H, et al
Journal: Zeitschr Geburtshilfe Perinatologie 198:143-149
Title: Prenatal ultrasound diagnosis of the Holt-Oram syndrome
Author: Brons JTJ, Van Geijn HP, Wladimiroff JW, et al
Journal: Prenat Diagn 8:175-181
Title: The antenatal ultrasonographic detection of the Holt-Oram syndrome
Author: Muller LM, deJong G, van Heerden KMM
Journal: S Afr J Med 68:313-315