Spot Diagnosis

Skeletal anomaly

Vikrant Sood, Mukul Aggarwal
Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India

Address for Correspondence: Dr Vikrant Sood, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
Question :
Spot diagnosis

What is the diagnosis?

Discussion :
Absent radius. It is commonly seen with Thrombocytopenia-absent radius {TAR}, Fanconi Syndrome, Holt-Oram Syndrome, Rapadilino Syndrome, Roberts Syndrome, Thalidomide Embryopathy, Trisomy 18 {Edward Syndrome}, And Vacterl Association. Absent radii is detectable during prenatal transvaginal ultrasonography as early as 13 weeks` gestation. Treatment includes splinting of the hands during infancy. Adaptive devices to assist with activities of daily living {e.g. dressing, toileting, feeding} are helpful. Prostheses are less useful than adaptive devices.

E-published: January 2011 Vol 8 Issue 1 Art # 5

Correct Answers : yes  42%

Last Shown : Jan 2011
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