http://upload.orthobullets.com/topic/6067/images/TAR - xray - colorado_moved.jpg
http://upload.orthobullets.com/topic/6067/images/Case A - xray - Kosin_moved.jpg
http://upload.orthobullets.com/topic/6067/images/clinical photo - colorado_moved.jpg
http://upload.orthobullets.com/topic/6067/images/classification def.jpg
http://upload.orthobullets.com/topic/6067/images/Case A - clinical photo - Kosin_moved.jpg
http://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 (3)

(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

26%

(376/1440)

2

Cardiac ultrasound, barium swallow and MRI

3%

(46/1440)

3

LFTs, CBC and cardiac ultrasound

7%

(101/1440)

4

Cardiac ultrasound, peripheral blood smear and MRI

9%

(133/1440)

5

CBC, peripheral blood smear and chromosomal breakage analysis

54%

(777/1440)

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

The clinical and radiographic images depict a patient with radial club hand. This is associated with a number of congenital anomalies including Fanconi’s Anemia (FA), thrombocytopenia absent radius (TAR), Holt-Oram syndrome, VACTERL syndrome, and VATER syndrome. Although all these congenital anomalies are important to recognize and treat, none is more life-threatening than FA. FA is an autosomal-recessive condition resulting in aplastic anemia and eventual death. The typical presentation is between 6-9 years of age. It is the most common inherited form of aplastic anemia. Genetic testing will reveal increased chromosomal breakage. A CBC will show decreased leukocytes, red blood cells and platelets. Of the choices above, it is the only one which requires bone marrow transplantation for survival.

DeKerviler et al reviewed many clinical and radiological features of FA. Congenital malformations affect multiple systems including the radial aspect of the forearm as well as the urinary system. They recommended ultrasound and imaging modalities for early detection of FA.

Alter described hematologic disorders manifest in the pediatric upper extremity. Pediatric orthopedic surgeons may be the first to detect FA, Diamond-Blackfan anemia and TAR. As such, an understanding of the syndromes and inheritance patterns may aid in early detection and aid in future genetic counseling.


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(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%

(138/1721)

2

Pollicization of the index finger

3%

(47/1721)

3

ECRB and ECRL transfers to the ulna

2%

(30/1721)

4

Free fibula transfer to the forearm

3%

(58/1721)

5

Ulna centralization and possible tendon transfers

83%

(1436/1721)

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

The image and vignette are consistent with non-syndromic radial longitunidal deficiency (RLD). He has a viable thumb with good active elbow flexion, therefore the treatment of choice is centralization and tendon transfers to re-establish balance across the wrist. The goal of centralizing the carpus on the ulna is to improve reach and to stabilize tendons and muscle balance across the wrist.

The decision for surgery is based on the range of motion of the elbow. In the case of a stiff elbow, a centralization should not be performed as doing so would prohibit the patient from reaching his/her face for dentition and feeding.

RLD is commonly associated with Thrombocytopenia absent radius (TAR), Holt-Oram and Fanconi’s anemia. Classification of RLD is based on the Bayne and Klug system and takes into account the amount of remaining radius present:
Type I: short distal radius
Type II: short distal radius with residual growth plates
Type III: small proximal radius
Type IV: absent radius

Incorrect Answers:
Answer 1: For advanced cases (types III/IV), surgery is recommended
Answer 2: The patient in the scenario has a thumb so pollicization is not indicated
Answer 3: This is not a surgical option
Answer 4: MTPJ transfers have been explored but not free fibula


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Question COMMENTS (7)

(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

4%

(69/1579)

2

Holt-Oram syndrome

3%

(51/1579)

3

VATER syndrome

2%

(39/1579)

4

VACTERL syndrome

3%

(42/1579)

5

Osteogenesis Imperfecta

87%

(1376/1579)

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

The clinical presentation is consistent with radial longitudinal deficiency, also known as "radial clubhand", which is associated with all of the listed conditions except for osteogenesis imperfecta.

Maschke et al report "radial longitudinal deficiency encompasses a spectrum of upper limb dysplasias and hypoplasias. The clinical presentation of the involved upper limb is often more obvious than the potentially life-threatening associated systemic conditions. All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi’s anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association."


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Question COMMENTS (5)
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