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~~

Classification³

Type I Short distal radius

Type II Hypoplastic radius

Type III Partial absence of radius

Type IV Complete absence of radius

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

Treatment

Straightening of the hand and wrist stabilisation through splinting are both techniques utilised after birth ⁴. Physiotherapy input is required in order to improve passive extension of elbow in wrist. Surgical correction (eg osteotomy, arthrodesis, fibular transplants, centralisaiton) is used for severe cases, generally performed at aged 1 ^5,6. Pollicisation is used if absent thumb.

-<p><strong>Radial hemimelia</strong> is a congenital absence of the <a href="/articles/radius">radius bone</a> of the forearm characterised by partial or total absence of the radius.</p><h4>Epidemiology</h4><p>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).</p><h4>Pathology</h4><p>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.</p><h5>Prenatal ultrasound</h5><p>This deformity can be detected in the anomaly scan done in the second trimester.</p><h5>Associations</h5><ul>
+<p><strong>Radial hemimelia</strong> is a congenital absence of the <a href="/articles/radius">radius bone</a> of the forearm characterised by partial or total absence of the radius.</p><h4>Epidemiology</h4><p>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).</p><h4>Pathology</h4><p>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.</p><h5>Prenatal ultrasound</h5><p>This deformity can be detected in the anomaly scan done in the second trimester.</p><h4>Classification<sup>3</sup>
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+<![endif]-->Type I Short distal radius</p><p>Type II Hypoplastic radius</p><p>Type III Partial absence of radius</p><p>Type IV Complete absence of radius</p><p> </p><p></p><h5>Associations</h5><ul>
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+<![endif]-->Straightening of the hand and wrist stabilisation through splinting are both techniques utilised after birth <sup>4</sup>. Physiotherapy input is required in order to improve passive extension of elbow in wrist. Surgical correction (eg osteotomy, arthrodesis, fibular transplants, centralisaiton) is used for severe cases, generally performed at aged 1 <sup>5,6</sup>. Pollicisation is used if absent thumb.</p><p></p>

References changed:

3. Heikel HV. Aplasia and hypoplasa of the radius: studies on 64 cases and on epiphyseal transplantation in rabbits with the imitated defect. (1959) Acta orthopaedica Scandinavica. Supplementum. 39: 1-155. <a href="https://www.ncbi.nlm.nih.gov/pubmed/14400621">Pubmed</a> <span class="ref_v4"></span>
4. Bora FW, Nicholson JT, Cheema HM. Radial meromelia. The deformity and its treatment. (1970) The Journal of bone and joint surgery. American volume. 52 (5): 966-79. <a href="https://www.ncbi.nlm.nih.gov/pubmed/5479484">Pubmed</a> <span class="ref_v4"></span>
5. Watson HK, Beebe RD, Cruz NI. A centralization procedure for radial clubhand. (1984) The Journal of hand surgery. 9 (4): 541-7. <a href="https://www.ncbi.nlm.nih.gov/pubmed/6747239">Pubmed</a> <span class="ref_v4"></span>
6. Nanchahal J, Tonkin MA. Pre-operative distraction lengthening for radial longitudinal deficiency. (1996) Journal of hand surgery (Edinburgh, Scotland). 21 (1): 103-7. <a href="https://www.ncbi.nlm.nih.gov/pubmed/8676013">Pubmed</a> <span class="ref_v4"></span>

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