Congenital Arm

Question 1

What things help distinguish congenital radial head dislocation from an acute traumatic dislocation?

Answer 1

1) bilateral involvement
2) hypoplastic capitellum
3) convex radial head
4) other congenital anomalies
5) lack of history of trauma
6) difficult to reduce

In adults treat with radial head resection if symptomatic; can reduce pain

Question 2

Describe Madelung’s deformity?

Answer 2

Congenital dyschondrosis of the distal radius physis (ulnar volar) that leads to:

1) partial deficiency of growth of distal radial physis
2) excessive radial inclination and volar tilt
3) ulnar carpal impaction

Possibly due to tethering of Vicker’s (short radio-lunate) ligament
Occurs mainly in gymnasts

Question 3

Which skeletal dysplasias is caused by a sex linked mutation of the short stature homeobox (SHOX) gene and can be a/w Madelung’s deformity?

Answer 3

Leri-Weill dyschondrosteosis

Question 4

During normal development where does the initial separation btw the radius and ulna occur?

Answer 4

Distal to proximal; most synostoses are proximal
Most will have duplication of sex chromosomes
Bilateral 60%

Question 5

What is the preferred treatment for bilateral radioulnar synostosis?

Answer 5

Fusion one forearm in pronation and the other in supination; unilateral can be managed with observation usually

Question 6

What conditions are a/w radial clubhand?

Answer 6

1) TAR (thrombocytopenia absent radius; thumb present)
2) Fanconi’s anemia (aplastic anemia)
3) Holt-Oram syndrome (cardiac defects)
4) VACTERL (vetebral abnormalities, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb defects)
5) VATER

Question 7

What tests/labs/studies should be ordered in a patient with congenital radial clubhand?

Answer 7

1) CBC, peripheral blood smear
2) echo
3) renal US

CBC, blood smear and chromosomal analysis important to r/o Fanconi’s anemia which is life threatening. Treat with bone marrow transplant. The echo and US are to evaluate for VACTERL/VATER

Question 8

What presents with deformity of hand with perpendicular relationship between forearm and wrist?

Answer 8

Congenital radial clubhand; thumb usually absent

Question 9

In a patient with radial clubhand but good elbow ROM and negative for other abnormalities should be managed how?

Answer 9

Ulna centralization and tendon transfers