Radial hemimelia
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Radial hemimelia is a congenital absence of the radius bone of the forearm characterised by partial or total absence of the radius.
Epidemiology
It occurs in 1:30,000-100,000 live births, and is slightly more common in males than in females (sex ratio of 3:2).
Pathology
This deformity is believed to develop at about 28th to 56th day of gestation. Exact etiology has not been proved though uterine compression, vascular injury and certain maternal drug consumption have been postulated.
Prenatal ultrasound
This deformity can be detected in the anomaly scan done in the second trimester.
Associations
- Holt-Oram syndrome
- Roberts syndrome
- Rothmund-Thomson syndrome
- thrombocytopenia-absent radius (TAR) syndrome (in which characteristically the thumb is present)
- Townes-Brocks syndrome
- VACTERL association
- Fanconi anemia
-<li><a href="/articles/townes-brocks-syndrome">Townes-Brocks syndrome</a></li>- +<li><a href="/articles/townes-brocks-syndrome-1">Townes-Brocks syndrome</a></li>
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