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Radial Clubhand (radial deficiency)

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Topic updated on 07/06/14 11:39am
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 distration external fixator
        • if thumb deformity then combine with thumb reconstruction at 18 months of age

 

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Qbank (4 Questions)

TAG
(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? Topic Review Topic
FIGURES: A   B        

1. Cardiac ultrasound and renal ultrasound
2. Cardiac ultrasound, barium swallow and MRI
3. LFTs, CBC and cardiac ultrasound
4. Cardiac ultrasound, peripheral blood smear and MRI
5. CBC, peripheral blood smear and chromosomal breakage analysis

PREFERRED RESPONSE ▶
TAG
(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? Topic Review Topic
FIGURES: A   B        

1. Definitive splinting and stretching
2. Pollicization of the index finger
3. ECRB and ECRL transfers to the ulna
4. Free fibula transfer to the forearm
5. Ulna centralization and possible tendon transfers

PREFERRED RESPONSE ▶
TAG
(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? Topic Review Topic
FIGURES: A   B        

1. Fanconi's Anemia
2. Holt-Oram syndrome
3. VATER syndrome
4. VACTERL syndrome
5. Osteogenesis Imperfecta

PREFERRED RESPONSE ▶




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