Holt oram syndrome

(Mary Clayton Holt, 20th century, British cardiologist and Samuel Oram, 20th century, British cardiologist), an autosomal heart disease associated with skeletal malformations, including hypoplastic thumb and short forearm (Fig.1). Patients may reveal radioulnar synostosis, accessory carpal bones or carpal coalition or tarsal coalition. Hyperphalangism and preaxial polydactyly are additional anomalies seen in some patients. A remnant of the central row of carpal bones, the os centrale, may sometimes be noted in this condition. The Holt Oram syndrome also shares some features with Fanconis anaemia.

DR/RB