Holt-Oram syndrome: a rare clinical image

Abstract

Holt-Oram syndrome is a rare autosomal dominant disorder presenting skeletal abnormalities of the upper limbs (hands and arms) with an underlying structural and/or conduction heart defect. The diagnosis is often made on clinical presentation. An associated cardiac defect may consist of complex congenital heart defects, conduction defects, and arrhythmias. Patients with Holt-Oram syndrome have at least one skeletal deformity in the upper limb, which may include an abnormal or missing wrist bone on an X-ray. The skeletal deformity may vary in severity and presentation, and include a thumb that looks like a finger, a thumb missing on hand, unequal length or underdeveloped upper arm bones, a partial or complete absence of bones in the forearm, and collar bone or shoulder blade abnormalities. Here, we are reporting a case of Holt-Oram syndrome in a five-year male child with ventricular septal defect (VSD), unusual skeletal deformity of the hypoplastic humerus, along with radial and ulnar bone defect, and a unique feature of Holt-Oram syndrome seen in our case.