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Updated: 5/25/2021

Radial Clubhand (radial deficiency)

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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
  • 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)
  • 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
  • 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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(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?

QID: 3566
FIGURES:

Cardiac ultrasound and renal ultrasound

30%

(1082/3610)

Cardiac ultrasound, barium swallow and MRI

3%

(117/3610)

LFTs, CBC and cardiac ultrasound

8%

(287/3610)

Cardiac ultrasound, peripheral blood smear and MRI

9%

(323/3610)

CBC, peripheral blood smear and chromosomal breakage analysis

49%

(1782/3610)

L 4 C

Select Answer to see Preferred Response

(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?

QID: 3572
FIGURES:

Definitive splinting and stretching

8%

(343/4344)

Pollicization of the index finger

3%

(121/4344)

ECRB and ECRL transfers to the ulna

3%

(111/4344)

Free fibula transfer to the forearm

4%

(154/4344)

Ulna centralization and possible tendon transfers

82%

(3578/4344)

L 2 C

Select Answer to see Preferred Response

(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?

QID: 2965
FIGURES:

CBC

2%

(106/5007)

CBC and renal ultrasound only

4%

(217/5007)

CBC, renal ultrasound, and echocardiogram

91%

(4577/5007)

CBC and MRI

1%

(33/5007)

No additional testing needed

1%

(48/5007)

L 1 D

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(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?

QID: 405
FIGURES:

Fanconi's Anemia

5%

(143/2947)

Holt-Oram syndrome

4%

(118/2947)

VATER syndrome

3%

(87/2947)

VACTERL syndrome

3%

(97/2947)

Osteogenesis Imperfecta

84%

(2490/2947)

L 1 D

Select Answer to see Preferred Response

(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?

QID: 6142

Congenital scoliosis

0%

(3/1071)

Hypoplastic thumb

22%

(237/1071)

Tracheoesophageal fistula

1%

(14/1071)

Imperforate anus

1%

(10/1071)

Lack of elbow flexion

75%

(802/1071)

L 2 E

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(SBQ04PE.69) Your partner, a pediatric hand surgeon, sees a child with a congenital upper extremity deformity. A radiograph is shown in Figure A. What is a relative contraindication to performing a hand centralization procedure in this patient?

QID: 2254
FIGURES:

Diminished grip strength

4%

(74/1899)

Unstable carpus

27%

(516/1899)

Cardiac defects

5%

(100/1899)

Limited terminal elbow extension

30%

(564/1899)

Current patient age

34%

(640/1899)

L 5 D

Select Answer to see Preferred Response

Evidence (12)
VIDEOS & PODCASTS (3)
EXPERT COMMENTS (13)
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