Holt-Oram syndrome: a rare clinical image

Kshitij Aviraj Singh, Amar Taksande

PAMJ. 2023; 45:25. Published 08 May 2023 | doi:10.11604/pamj.2023.45.25.38864

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.
Corresponding author
Kshitij Aviraj Singh, Department of Paediatrics, Jawaharlal Nehru Medical College, Dutta Meghe Institute of Higher Education and Research, Sawangi Meghe, Wardha, Maharashtra State, India (kasrods007@gmail.com)

The Pan African Medical Journal (ISSN: 1937-8688) is a subsidiary of the Pan African Medical Journal. The contents of this journal is intended exclusively for professionals in the medical, paramedical and public health and other health sectors.

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