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Radial Clubhand (radial deficiency)

SUMMARY

  • Radial Clubhand is a rare birth defect characterized by a deformity of hand, with perpendicular relationship between forearm and wrist, and an absent thumb. 

  • Diagnosis is made on physical exam.

  • Treatment may be observation or surgical reconstruction when the child is around 6 months of age. 

EPIDEMIOLOGY

  • Incidence

    • rare

      • 1 per 100,000

    • anatomic location

      • bilateral in 50-72%

      • thumb usually deficient as well

ETIOLOGY

  • Genetics

    • likely related to sonic hedgehog gene

  • Associated with 

     

    • 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)

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 

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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