The Holt-Oram syndrome: a case presentation and review of management parameters.
Holt-Oram syndrome (HOS) is a dominant inherited disorder which causes skeletal defects of the arms and heart disease. This report describes a 2-year-old child with HOS whose skeletal anomalies affected his functional capabilities and developmental sequence. A comprehensive evaluation of the child, which included radiographic, cardiac, gross and fine motor assessment, electrodiagnosis and consideration of surgery, resulted in a carefully formulated treatment plan. Review of the literature emphasizes the importance of selectively balancing conservative management with surgery for a satisfactory cosmetic result and optimal function.
D002657:Child Development; D002675:Child, Preschool; D004576:Electromyography; D005542:Forearm / Q000002:abnormalities*; D006228:Hand Deformities, Congenital; D006344:Heart Septal Defects, Atrial / Q000534:rehabilitation*; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000503:physiopathology; D013577:Syndrome