Case contribution: Dr Radhiana Hassan
Clinical:
- A 2 years old girl
- Underlying VACTERL syndrome
- Imperforate anus and single kidney
- Correction done for imperforate anus
- Referred for left upper limb deformity
- Clinically has shortened left forearm, absent thumb with supple wrist joint. Able to flex elbow but weak grip.
Radiographic findings:
- Absent left radius with four digits (yellow arrows).
- The left ulna is shorter length with coarse trabecular pattern particularly at its diaphysis. Radial deviation of left hand.
- Left capitellum ossification centre is present but small in size (in comparison to the normal right elbow).
- Normal ossification centre of both carpal hands; capitate, hamate and triquetrum, are seen.
- Right radius and right ulna is grossly normal.
Diagnosis: Radial hemimelia.
Discussion:
- Radial hemimelia is a congenital absence of the radius bone of the forearm
- It is characterized by a deformity of hand, with perpendicular relationship between forearm and wrist and an absent thumb.
- It can be partial or total absence of the radius. Can be bilateral in 50-72%.
- It occur in 1:30,000-100,000 live births
- Slightly more common in males than females
- Classification:
- 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-autosomal dominant with cardiac defects
- Roberts syndrome,
- Rothmund-Thomson syndrome,
- VACTERL association,-vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis and limb defect
- Fanconi anaemia,-autosomal recessive with aplastic anemia
- TAR (thrombocytopenia-absent radius)- autosomal recessive with thrombocytopenia and absent radius, thumb is typically present.
- Treatment: straightening of the hand and wrist stabilization through splinting, physiotherapy to improve passive extension of elbow and wihrs, surgical correction and pollicisation if thumb is absent.
