Updated: 10/12/2016

Radial Clubhand (radial deficiency)

Topic
Review Topic
0
0
Questions
5
0
0
Evidence
5
0
0
Videos
1
https://upload.orthobullets.com/topic/6067/images/TAR - xray - colorado_moved.jpg
https://upload.orthobullets.com/topic/6067/images/Case A - xray - Kosin_moved.jpg
https://upload.orthobullets.com/topic/6067/images/clinical photo - colorado_moved.jpg
https://upload.orthobullets.com/topic/6067/images/classification def.jpg
https://upload.orthobullets.com/topic/6067/images/Case A - clinical photo - Kosin_moved.jpg
https://upload.orthobullets.com/topic/6067/images/xray - colorado_moved.jpg
Introduction
  • longitudinal deficiency of the radius
    • likely related to sonic hedgehog gene
    • thumb usually deficient as well
    • bilateral in 50-72%
    • incidence is 1:100,000
  • Associated with q  
    • TAR
      • autosomal recessive condition with thrombocytopenia and absent radius
      • different in that thumb is typically present 
    • Fanconi's anemia
      • autosomal recessive condition with aplastic anemia
      • Fanconi screen and chromosomal breakage test to screen
      • treatment is bone marrow transplant
    • Holt-Oram syndrome
      • autosomal dominant condition characterized by cardiac defects
    • VACTERL Syndrome
      • vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) 
    • VATER Syndrome
      • vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) 

Classification
 
Bayne and Klug Classification
Type I Deficient distal radial epiphysis 
Type II Deficient distal and proximal radial epiphyses
Type III Present proximally (partial aplasia)
Type IV Completely absent (total aplasia - most common)
 
Presentation
  • Physical exam
    • deformity of hand with perpendicular relationship between forearm and wrist 
    • absent thumb
    • perform careful elbow examination
Imaging
  • Radiographs
    • entire radius and often thumb is absent 
  • Laboratory
    • must order CBC, renal ultrasound, and echocardiogram to screen for associated conditions q
Treatment
  • Nonoperative
    • passive stretching
      • target tight radial-sided structures
    • observation
      • indicated if absent elbow motion or biceps deficiency
        • hand deformity allows for extra reach to mouth in presence of a stiff elbow
  • Operative
    • hand centralization
      • indications
        • good elbow motion and biceps function intact
        • done at 6-12 months of age
        • followed by tendon transfers
      • contraindications
        • older patient with good function
        • patients with elbow extension contracture who rely on radial deviation
        • proximate terminal condition
      • technique 
        • involves resection of varying amount of carpus, shortening of ECU, and, if needed, an angular osteotomy of the ulna (be sure to spare ulnar distal physis)
        • may do as two stage procedure in combination with a distraction external fixator
        • if thumb deformity then combine with thumb reconstruction at 18 months of age
 

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Questions (5)

(OBQ09.152) A 6-year-old boy presents to your office with a forearm deformity and the radiographs shown in Figure A. What additional tests must be ordered for this patient? Review Topic

QID: 2965
FIGURES:
1

CBC

2%

(72/3413)

2

CBC and renal ultrasound only

5%

(160/3413)

3

CBC, renal ultrasound, and echocardiogram

91%

(3108/3413)

4

CBC and MRI

1%

(20/3413)

5

No additional testing needed

1%

(34/3413)

ML 1

Select Answer to see Preferred Response

PREFERRED RESPONSE 3

(SAE07PE.82) A 4-year-old child was born with bilateral congenital radial clubhands. Which of the following associated conditions is a contraindication to centralization of the hands on the ulna? Review Topic

QID: 6142
1

Congenital scoliosis

0%

(0/125)

2

Hypoplastic thumb

21%

(26/125)

3

Tracheoesophageal fistula

2%

(2/125)

4

Imperforate anus

0%

(0/125)

5

Lack of elbow flexion

76%

(95/125)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

(OBQ11.143) A child is seen in the pediatric orthopedic hand clinic for evaluation of a congenital deformity. A clinical photograph and radiograph are seen in Figures A and B. What is the next best step in this child's evaluation to rule out an associated autosomal-recessive lethal condition? Review Topic

QID: 3566
FIGURES:
1

Cardiac ultrasound and renal ultrasound

27%

(673/2520)

2

Cardiac ultrasound, barium swallow and MRI

3%

(77/2520)

3

LFTs, CBC and cardiac ultrasound

8%

(191/2520)

4

Cardiac ultrasound, peripheral blood smear and MRI

8%

(208/2520)

5

CBC, peripheral blood smear and chromosomal breakage analysis

54%

(1355/2520)

ML 4

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

(OBQ11.149) A 7-month-old boy has radial longitudinal deficiency. The initial work-up is negative for any cardiac, hematopoetic or renal abnormalities. He has good active elbow flexion and no other deformities. A clinical image and radiograph are seen in Figures A and B. Surgical management should include which of the following? Review Topic

QID: 3572
FIGURES:
1

Definitive splinting and stretching

8%

(229/2945)

2

Pollicization of the index finger

3%

(85/2945)

3

ECRB and ECRL transfers to the ulna

2%

(60/2945)

4

Free fibula transfer to the forearm

3%

(88/2945)

5

Ulna centralization and possible tendon transfers

84%

(2461/2945)

ML 2

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PREFERRED RESPONSE 5

(OBQ08.19) A 2-year-old boy has the upper limb deformity seen in Figures A and B. All of the following are associated with this condition EXCEPT? Review Topic

QID: 405
FIGURES:
1

Fanconi's Anemia

5%

(98/1978)

2

Holt-Oram syndrome

3%

(67/1978)

3

VATER syndrome

2%

(49/1978)

4

VACTERL syndrome

3%

(58/1978)

5

Osteogenesis Imperfecta

86%

(1699/1978)

ML 1

Select Answer to see Preferred Response

PREFERRED RESPONSE 5
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VIDEOS (1)
Topic COMMENTS (10)
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