518709 research-article2014
JHS0010.1177/1753193413518709The Journal of Hand SurgeryVilkki
JHS(E)
Full length article
The Journal of Hand Surgery (European Volume) 201X, Vol. XXE(X) 1–7 © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/1753193413518709 jhs.sagepub.com
Severity grading in radial dysplasia S. K. Vilkki
Abstract A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author’s examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author’s series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients. Keywords Congenital radius deficiency, radius dysplasia, absence of the radius, radial club hand classification, hand quality, severity grading Date received: 4th May 2013; revised: 30th September 2013; accepted: 2nd December 2013
Introduction In congenital radial dysplasia the upper extremity with a hypoplastic or absent radius is typically deformed at the wrist. For this reason the term ‘radial club hand’ has been a term in common use among clinicians. However, it is a poor description of the whole entity of radial dysplasia or longitudinal radial deficiency, which may range from hypoplasia of the thumb to complete absence of the radius, and sometimes includes proximal defects of the humerus and shoulder. When a baby is born with a radially deviating wrist and dysplastic upper extremity, many questions arise about the exact nature of the lesion and ultimately its effect on hand function. The options for treatment and the ability to minimize the adverse effects of the lesion will depend on many associated factors, which differ from case to case. Thorough examination with a systematic list of findings will help in assessing the severity of each extremity. The most apparent finding in primary investigation of patients with radial dysplasia is usually the deformed wrist and a lack, or under-development of the thumb. The radiographic classification of absent radius has been described by Bayne and Klug (1987) and their classification has been modified by Goldfarb et al. (2005) (Table 1). The Bayne–Klug classification
describes only the type and extent of bone defect associated with radial deficiency. It is a radiological classification that tells whether there is any support or not for the hand. In Bayne–Klug types III and IV this support is completely lacking. However, when examining the hands and upper limbs of children classified as having absent radius of types II, III or IV, clear differences in the function of finger joints can be noticed. Sometimes there are fingers of normal appearance, which can extend and flex normally and in which the skin creases have developed normally. In others there is marked stiffness in the fingers, especially in the metacarpophalangeal (MCP) joints and proximal interphalangeal (PIP) joints as described by several authors (Heikel, 1959; Lamb, 1977; Skerik and Flatt, 1969). A lack of skin creases is sometimes apparent on the flexor surface when finger motion is severely restricted. Similar variability applies to wrist function and the ability to Department of Hand and Microsurgery, Tampere University Hospital, Tampere, Finland Corresponding author: S. K. Vilkki, Department of Hand and Microsurgery, Tampere University Hospital, Box 2000, FIN-33521 Tampere, Finland. Emails: [email protected]
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The Journal of Hand Surgery (Eur) XXE(X)
Table 1. The present classification of radial dysplasia according to Goldfarb et al. (2005). Types N, 0 and V have been added to the previous classification of Bayne and Klug (1987). Type
Anomaly
N 0 I II III IV V
Isolated thumb anomaly Deficiency of the carpal bones Short distal radius Hypoplastic distal radius in miniature Absent distal radius Complete absent radius Complete absent radius and manifestations in the proximal humerus
correct the deformity. Wrist tightness varies from case to case, even when comparing type IV extremities with complete absence of the radius, ranging from supple to very tightly deformed. The extension function of the wrist is very weak in some extremities. Additionally, there may be various proximal anatomical and functional defects at the elbow and shoulder levels. Goldfarb et al. (2005) used the term ‘proximal radial longitudinal dysplasia’ for an association of radial deficiency and an absent proximal humerus. Variable proximal anatomical defects can be found in many patients with radial dysplasia (Lamb, 1977; Martini, 1992; Riordan, 1955; Skerik and Flatt, 1969). These proximal defects will affect the usefulness and overall quality of the limb with radial dysplasia. Thus radial longitudinal deficiency may affect the whole extremity, from fingers to shoulder, with great variation. Previous studies have described the radial longitudinal deficiency with associated defects and the authors have tried to modify and improve the classification (Goldfarb et al., 2005, 2006; James et al., 1999). In a long-term follow-up study of 19 operated extremities, a scoring system was used preoperatively (Vilkki, 2008). In the present study, all the existing abnormal factors have been used to score the overall impairment of the upper limb with radial dysplasia. Numerical values for different defects have been used to express the severity of the lesions. The main aim of the article is to introduce a scoring system that is linked to the management and outcomes of the different presentations of radial deficiency.
Patients and methods The material is based on the clinical findings in 47 consecutive extremities with radial dysplasia examined by the author between 1987 and 2012. There
were 33 patients (21 male and 12 female) referred to our hand unit at ages from 0 to 7 years. According to the Bayne–Klug classification, the limbs were originally classified as type IV in 36, type III in eight cases and type II in three cases. According to the extended classification (Table 1) four type IV patients now belong to type V. Fourteen patients (42%) had a bilateral radial dysplasia. One patient with bilateral involvement was not included and one limb of another patient was also excluded because the three limbs had been operated on previously and the exact original situation was not recorded. The mean age of the 32 patients (44 limbs) included in the study was 1.9 years at the time of assessment. The system for scoring is called the HWP (hand, wrist, proximal) radial dysplasia severity score. In this grading system, all easily recognizable symptoms or signs of defects are given severity points when examining the limb at different levels: hand (H), wrist (W) and proximal (P), at the elbow and shoulder. In each category the maximum is 10 points. To create a practical scoring system the features at different levels have been listed in table form. The different signs were graded into severity points as shown in Figure 1. The chart was completed according to the original findings in every limb with radial dysplasia. The sum of H + W + P is called the severity index for radial longitudinal deficiency. This varies from 1 to 30 points. The value of the severity index is considered to be negatively related to hand quality and to overall functional capacity. Depending on the value of the severity index, the extremities are divided into three grades of severity: mild, moderate and severe (Table 2). The expression of the overall severity of lesions or scoring (for example H4W6P0) is comparable with tumour grading by the TNM (tumour, nodes, metastasis) classification. The HWP severity evaluation is used together with the modified Bayne–Klug classification to give more precise information about the functional capacity of each limb.
Severity grading at the different levels Severity points related to hand quality (H). Severity points are based on stiffness and flexion deficits of the MCP joints and associated camptodactyly or severe stiffness of the PIP joints. Other factors that influence the hand function are the presence and quality of the thumb, possible syndactylies and the learned pattern of pinching. Hand points from 0 to 10 are mainly given for stiffness of the MCP and PIP joints. The index to little fingers can sometimes be almost normal, but very often the finger quality is clearly compromised. The typical pattern is a
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Vilkki
Figure 1. The chart for recording the findings in radial dysplasia. Table 2. The mean values for severity points and the severity index according to severity group and point category in the series of 44 upper limbs with longitudinal radial deficiency. Group
Mild (0–8 points)
Moderate (9–16 points)
Severe (17–30 points)
n (%) Point category: H W P Mean severity index
8 (18%)
21 (48%)
1.1 3.8 0.9 5.8
3.5 5.8 2.2 11.5
15 (34%) 7.0 8.7 5.4 21.1
combination of MCP joint stiffness and PIP joint camptodactyly (Figure 2). The radial fingers are more commonly affected, while the little finger usually
looks almost normal. There may be stiffness of the MCP joints in some or all fingers, and passive flexion is often not possible beyond 40°. Typical
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The Journal of Hand Surgery (Eur) XXE(X)
Figure 2. Typical type IV radial deficiency with a hypoplastic thumb. Primarily scored as H5W6P2. Severity index 13 and moderate grade. After wrist correction, the thumb was stabilized with MCP joint fusion. This resulted in a strong pinch and very useful gripping ability.
camptodactylic fingers are a sign of extension deficit at the PIP joints. There may be lack of PIP flexion as well. Stiff finger joints will give 1 to 2 severity points, while an absence of a finger will give 2 points. Syndactyly between radial fingers will add points. When there is associated syndactyly (partial or complete) between the index and middle finger, 1 severity point is added. The pinching pattern or how the child uses the fingers when pinching an object is examined. Most patients without a thumb use the index–middle finger web for pinching. When the pinching pattern occurs at the ring–small web that is considered a less optimal sign and 1 point is added. This sign also suggests that the radial fingers are quite poorly functioning and that possible pollicization may lead to a useless pollicized index finger, unlike when the pinching pattern is originally at the index–middle web, which fortunately is much more common. Thumb absence or variable hypoplasia is a common finding in most upper limbs, but in cases of thrombocytopenia-absent radius syndrome, there may be a functional thumb and the radial wrist bones (trapezium, trapezoid and scaphoid) are better developed than in other types of radial deficiency. The same applies to a hypoplastic thumb, which can be reconstructed into a stable and useful thumb in some rare cases (Figure 2). That is why a deduction of 2 points is made from the overall severity score, when a useful and stable thumb with reasonable adductor function is available. Severity grading of wrist tightness (W). Severity points from 0 to 10 are given according to tightness of the radial deviation. This should be assessed
Figure 3. Wrist (W) points given according to radial deviation of the wrist. Two points for each 30° of radial deviation. Ulna bowing may add one or two additional points. Light pull from the fingers until the end-point is used during radiographic examination to demonstrate possible straightening and tightness of the wrist. There were 6 W-points owing to more than 60° tightness in this case.
using gentle traction on the hand while trying to move the hand into a more normal position or aligning it with forearm axis. The best achievable position or end point should be recorded. A radiograph should be taken to confirm the position into which the hand can be easily placed in relation to the axis of the forearm. The hand–forearm angle may have values from 0° to over 90° (Figure 3) and according to the tightness of radial deviation, 2 severity points are added for each 30° of remaining radial deviation or a maximum of 8 points. Ulna bowing sometimes contributes considerably to the radial deviation. Therefore 1 or 2 severity points can be added when the measured ulnar bow is between 20°–40° or over 40°, respectively (Figure 4). At the wrist level, the tightness of radial deviation depends on the radial-sided muscular abnormality, which is due to fusion of the tendons and ligaments or a fibrous anlage at the radial side of the forearm and wrist. However, many wrists are quite supple and the deforming force is easily overcome by the examiner’s light pull. Wrist tightness is not clearly related to the bone defect or the Bayne–Klug classification. Effect of early conservative treatment on severity. The treatment of wrist deformity should always be started immediately after birth, attempting to overcome the wrist tightness with conservative stretching and splinting. This treatment is clearly most effective during the first few months of life. A delay in splinting and stretching treatment may therefore have a
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Vilkki
Figure 5. An example of a proximal radial longitudinal dysplasia. No elbow motion, shoulder instability. Severity scoring primarily as H7W6P10. Severity index 23 and severe grade. Radiograph taken at age 1 year. Figure 4. Radiographic findings at the age of 5 years in a non-operatively treated type III radial dyplasia. Only two fingers are present; the little finger is normal and the combined radial finger or ‘superdigit’ is almost completely stiff. Marked ulnar bowing is combined with a proximal radioulnar synostosis. Severity scoring H7W4P1. Severity index 12 and moderate grade.
significant impact on ultimate outcome. When early treatment is neglected, the wrist tightness will quite rapidly worsen, which is why 2 extra severity points are given when these measures are omitted, or started after 6 months of age. Severity grading of proximal defects (P). Variable anomalies at the proximal forearm, elbow, arm and shoulder will also worsen the severity in many extremities with longitudinal radial deficiency and they may give an additional 0 to 10 points. Anomalies of the upper arm flexor muscles diminish the ability to flex the elbow. Defects at a proximal level are not uncommon; a poor or limited range of active or passive elbow motion and weakness of active elbow flexion are typical in many cases. This may be due to a lack of normal upper arm muscles; additionally, elbow flexion power may be poor due to severe wrist deformity, which leaves the forearm muscles abnormally slack. A limited range of active or passive gleno-humeral motion or signs of apparent instability of the shoulder may also be associated. A radiograph may show an intercalary or proximal defect of the humerus (Figure 5). Associated muscle defects around the shoulder and upper arm will make the gleno-humeral joint even more unstable, resulting in highly abnormal function.
Results Scores to characterize the severity of the examined limbs were obtained during outpatient visits. All findings were recorded before starting treatment. The affected limbs were divided into three groups
according to the values of the severity index (Table 2): mild (1–8); moderate (9–16); and severe, when 17 or more severity points were collected. In the mild group the hand quality was usually good with H-points from 0 to 2 (Table 2). The fingers were mostly functioning normally and pinch was strong between the index and middle fingers. The range of wrist (W) points was from 2 to 5. Mild bowing was found in two cases. In the mild group proximal (P) defects scoring from 0 to 2 points were found in half of the cases. Almost half (48%) of the examined extremities scored as moderate (Table 2). The range of H-points was 0 to 8. Similarly W-points were given from 3 to 8. Proximal defects were found in 20 of 21 extremities but scored only from 0 to 5 additional P-severity points. However, bowing of the ulna was most common in this group as 12 limbs had a clear bow. The bow was over 40° in seven limbs. The severe group consisted of 15 (34%) severely abnormal limbs (Table 2). Hand quality was commonly low with H-points given from 5 to 9. Also the wrist was severely involved with W-points from 6 to10. All these limbs scored proximal points from 2 to 10. These dysplastic limbs had impaired function due to the poor quality of the fingers, tightness of the wrist and additional proximal defects (Figure 6). Most fingers were stiff, pinch was weak, the lack of intrinsic muscle power to the radial fingers was usually clear and the usage pattern was often at the most ulnar finger web. Four patients in the severe group had proximal humeral defects and belonged to the category of ‘proximal radial longitudinal dysplasia’. The mean severity index was 24.8 points in those limbs. The mean severity index correlated well with different types of longitudinal radial deficiency although the number of limbs with types II, III and V was very small; the correlation was clearest or almost linear in the H-point category (Table 3). Similarly the severity grade was in accord with the type of radial deficiency (Table 4).
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The Journal of Hand Surgery (Eur) XXE(X)
Figure 6. An example of a severe grade and type IV radial deficiency. The fingers are poor in quality with partial syndactyly at the index-long web. Extremely tight radial deviation and very poor elbow flexion. Severity score H9W10P3 and severity index 22. Table 3. Severity index and different severity points and their mean values according to the type of radial dysplasia in the series of 44 upper limbs with longitudinal radial deficiency. Type
n
II III IV V
3 8 29 4
Severity index
H-points
W-points
P-points
Range (mean)
Range (mean)
Range (mean)
Range (mean)
2–10 (6.0) 5–12 (9.0) 4–23 (14.4) 23–26 (24.8)
0–3 (1.3) 0–7 (2.8) 0–9 (4.6) 5–8 (7.3)
2–4 (3.0) 3–8 (5.0) 2–10 (7.0) 6–8 (7.5)
0–3 (1.7) 0–2 (1.3) 0–7 (2.8) 10–10 (10.0)
Discussion High variability in the quality of fingers, differences in wrist tightness and existence of other associated anatomical defects in the upper limbs of patients with radial deficiency has led to confusion when assessing the results of different treatments. In order to improve the comparability of limbs with Bayne– Klug types II, III and IV deficiencies, we have tried to analyse the variable abnormal anatomical and functional findings, and to grade the hand quality and allround severity of the deformity. Using the presented severity grading system, the upper limbs could be divided into more comparable subgroups. The HWP score gives information about the extent of the lesion and the functional quality of the different parts of the upper limb. This helps in forming an individual treatment plan and in setting the goals that might be possible to achieve. The correction of the wrist deformity may be relatively easy in the mild group, as the initial alignment of the wrist is quite acceptable. In the moderate group the hand quality is compromised (more than 3 H-points) in half of the cases and the wrist is tight (more than 5 W-points) in
Table 4. Severity grades according to the type of radial dysplasia in the series. Type
n
Mild
Moderate
Severe
II III IV V
3 8 29 4
2 3 3 —
1 5 15 —
— — 11 4
60% of extremities. Mild proximal defects are found, mainly manifest as mild weakness of elbow flexion. Additionally an ulnar bow was a common finding in over half the limbs in this group. Wrist alignment is often more difficult than in the mild group. The results of pollicization are affected by the poor quality of fingers or the high H-points scores. The severe group typically consists of hands with multiple stiff finger units (over 5 H-points) and contracted wrists (over 6 W-points), together with poor elbow or shoulder function (over 5 P-points in one-third). The alignment of the wrist may require a surgical soft tissue release operation owing to wrist tightness. In some poor quality hands a pollicization procedure may not be
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Vilkki possible due to a lack of intrinsic muscles. In the most severe group concomitant proximal lesions are common and may greatly impair the function of the whole limb. Luckily a severity index much more than 20 points is seldom seen. In these most difficult cases the prospect of improving hand function by wrist alignment or pollicization is often questionable or the procedures are clearly contraindicated. Sometimes the only powerful grip is between the radially deviated and poorly functioning hand and the upper arm during elbow and wrist flexion (Figure 6). The muscle loss in many forearms may be extensive and does not allow active wrist extension before or after treatment. Successful conservative treatment may improve the severity score. In neglected cases, the lack of initial conservative treatment will increase the severity index. The growth of the child may worsen the severity rapidly during the first 3 years of life in untreated cases and the wrist position will become very tightly deformed. Post-operatively, the severity index can improve from the initial stage, mainly due to wrist correction. Certain complications, like late recurrence of radial deviation after surgical treatment, may raise the severity index values. The severity scoring system should always be used together with the Bayne–Klug classification. The severity scoring adds functional elements to the previous classification, but both are important for proper diagnosis and in the planning of treatment. It must be noted that the scoring system presented here has some weakness in expressing the most severe proximal lesions. A large intercalary defect of the proximal humerus alone results in a maximum of ten P-points because the upper arm and shoulder joint are so defective that the elbow is also nonfunctional (Figure 4). Another weakness of the scoring system is that measuring the tightness of radial deviation remains partly subjective because the force to align the wrist during examination is not standardized. However, the examiner can feel a clear endpoint when trying to align the radial deviation firmly but without causing pain and is able to allocate the appropriate points as the deviation is measured with 30° steps. Furthermore, the scoring method has so far been used systematically only in our unit, so there has been no comparison with its use in other units. However, its reproducibility seems to be quite reliable because of the ability to score elements easily. Most of the defects listed in Figure 1 have just one meaning and therefore the scoring should be reproducible by any examining physician. This has been tested by repeating clinical assessments and checking the scoring at different times, for example during repeat outpatient clinics, and in the ward before operative procedures. The score was always checked at least twice. The scoring system has also been
improved over the years, with experience in trying to find the right balance for the weights of the individual defects and the scores. This scoring method is considered to be helpful in selecting between different treatment options and optimizing the timing of surgical procedures. Grading into the different severity categories will also help in assessing the results of treatment in different patients, because limbs with similar features can be compared. The benefit of this type of assessment and scoring system will be seen in the future only with longer-term generalized use. Acknowledgements I would like to acknowledge Dr Brett McClelland, from Newcastle, Australia, an International Bone Research Association (IBRA) fellow at the time of the study at Department of Hand and Microsurgery in Tampere University Hospital, Tampere Finland, for his invaluable help in editing the manuscript.
Conflict of interests None declared.
Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
References Bayne LG, Klug MS. Long-term review of the surgical treatment of radial deficiencies. J Hand Surg Am. 1987, 12: 169–79. Heikel HVA. Aplasia and hypoplasia of the radius: Studies on 64 cases and on epiphyseal transplantation in rabbits with the imitated defect. Acta Orthop Scand. 1959, Suppl 39: 1–155. Goldfarb CA, Manske PR, Busa R, Mills J, Carter P, Ezaki M. Upper-extremity phocomelia reexamined: a longitudinal dysplasia. J Bone Joint Surg Am. 2005, 87: 2639–48. Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg Am. 2006, 31: 1176–82. James MA, McCarroll HR, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg Am. 1999, 24: 1145–55. Lamb DW. Radial club hand. J Bone Joint Surg Am. 1977, 59: 1–13. Martini AK. Morphology and systematic aspects of the longitudinal radial defect. Handchir Mikrochir Plast Chir. 1992, 24: 16–22. Riordan DC. Congenital absence of the radius. J Bone Joint Surg Am. 1955, 37: 1129–40. Skerik SK, Flatt AE. The anatomy of congenital radial dysplasia. Clin Orthop Relat Res. 1969, 66: 125–43. Vilkki SK. Vascularized metatarsophalangeal joint transfer for radial hypoplasia. Semin Plast Surg. 2008, 22: 195–212.
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JHS0010.1177/1753193413518709The Journal of Hand SurgeryVilkki
JHS(E)
Full length article
The Journal of Hand Surgery (European Volume) 201X, Vol. XXE(X) 1–7 © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/1753193413518709 jhs.sagepub.com
Severity grading in radial dysplasia S. K. Vilkki
Abstract A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author’s examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author’s series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients. Keywords Congenital radius deficiency, radius dysplasia, absence of the radius, radial club hand classification, hand quality, severity grading Date received: 4th May 2013; revised: 30th September 2013; accepted: 2nd December 2013
Introduction In congenital radial dysplasia the upper extremity with a hypoplastic or absent radius is typically deformed at the wrist. For this reason the term ‘radial club hand’ has been a term in common use among clinicians. However, it is a poor description of the whole entity of radial dysplasia or longitudinal radial deficiency, which may range from hypoplasia of the thumb to complete absence of the radius, and sometimes includes proximal defects of the humerus and shoulder. When a baby is born with a radially deviating wrist and dysplastic upper extremity, many questions arise about the exact nature of the lesion and ultimately its effect on hand function. The options for treatment and the ability to minimize the adverse effects of the lesion will depend on many associated factors, which differ from case to case. Thorough examination with a systematic list of findings will help in assessing the severity of each extremity. The most apparent finding in primary investigation of patients with radial dysplasia is usually the deformed wrist and a lack, or under-development of the thumb. The radiographic classification of absent radius has been described by Bayne and Klug (1987) and their classification has been modified by Goldfarb et al. (2005) (Table 1). The Bayne–Klug classification
describes only the type and extent of bone defect associated with radial deficiency. It is a radiological classification that tells whether there is any support or not for the hand. In Bayne–Klug types III and IV this support is completely lacking. However, when examining the hands and upper limbs of children classified as having absent radius of types II, III or IV, clear differences in the function of finger joints can be noticed. Sometimes there are fingers of normal appearance, which can extend and flex normally and in which the skin creases have developed normally. In others there is marked stiffness in the fingers, especially in the metacarpophalangeal (MCP) joints and proximal interphalangeal (PIP) joints as described by several authors (Heikel, 1959; Lamb, 1977; Skerik and Flatt, 1969). A lack of skin creases is sometimes apparent on the flexor surface when finger motion is severely restricted. Similar variability applies to wrist function and the ability to Department of Hand and Microsurgery, Tampere University Hospital, Tampere, Finland Corresponding author: S. K. Vilkki, Department of Hand and Microsurgery, Tampere University Hospital, Box 2000, FIN-33521 Tampere, Finland. Emails: [email protected]
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The Journal of Hand Surgery (Eur) XXE(X)
Table 1. The present classification of radial dysplasia according to Goldfarb et al. (2005). Types N, 0 and V have been added to the previous classification of Bayne and Klug (1987). Type
Anomaly
N 0 I II III IV V
Isolated thumb anomaly Deficiency of the carpal bones Short distal radius Hypoplastic distal radius in miniature Absent distal radius Complete absent radius Complete absent radius and manifestations in the proximal humerus
correct the deformity. Wrist tightness varies from case to case, even when comparing type IV extremities with complete absence of the radius, ranging from supple to very tightly deformed. The extension function of the wrist is very weak in some extremities. Additionally, there may be various proximal anatomical and functional defects at the elbow and shoulder levels. Goldfarb et al. (2005) used the term ‘proximal radial longitudinal dysplasia’ for an association of radial deficiency and an absent proximal humerus. Variable proximal anatomical defects can be found in many patients with radial dysplasia (Lamb, 1977; Martini, 1992; Riordan, 1955; Skerik and Flatt, 1969). These proximal defects will affect the usefulness and overall quality of the limb with radial dysplasia. Thus radial longitudinal deficiency may affect the whole extremity, from fingers to shoulder, with great variation. Previous studies have described the radial longitudinal deficiency with associated defects and the authors have tried to modify and improve the classification (Goldfarb et al., 2005, 2006; James et al., 1999). In a long-term follow-up study of 19 operated extremities, a scoring system was used preoperatively (Vilkki, 2008). In the present study, all the existing abnormal factors have been used to score the overall impairment of the upper limb with radial dysplasia. Numerical values for different defects have been used to express the severity of the lesions. The main aim of the article is to introduce a scoring system that is linked to the management and outcomes of the different presentations of radial deficiency.
Patients and methods The material is based on the clinical findings in 47 consecutive extremities with radial dysplasia examined by the author between 1987 and 2012. There
were 33 patients (21 male and 12 female) referred to our hand unit at ages from 0 to 7 years. According to the Bayne–Klug classification, the limbs were originally classified as type IV in 36, type III in eight cases and type II in three cases. According to the extended classification (Table 1) four type IV patients now belong to type V. Fourteen patients (42%) had a bilateral radial dysplasia. One patient with bilateral involvement was not included and one limb of another patient was also excluded because the three limbs had been operated on previously and the exact original situation was not recorded. The mean age of the 32 patients (44 limbs) included in the study was 1.9 years at the time of assessment. The system for scoring is called the HWP (hand, wrist, proximal) radial dysplasia severity score. In this grading system, all easily recognizable symptoms or signs of defects are given severity points when examining the limb at different levels: hand (H), wrist (W) and proximal (P), at the elbow and shoulder. In each category the maximum is 10 points. To create a practical scoring system the features at different levels have been listed in table form. The different signs were graded into severity points as shown in Figure 1. The chart was completed according to the original findings in every limb with radial dysplasia. The sum of H + W + P is called the severity index for radial longitudinal deficiency. This varies from 1 to 30 points. The value of the severity index is considered to be negatively related to hand quality and to overall functional capacity. Depending on the value of the severity index, the extremities are divided into three grades of severity: mild, moderate and severe (Table 2). The expression of the overall severity of lesions or scoring (for example H4W6P0) is comparable with tumour grading by the TNM (tumour, nodes, metastasis) classification. The HWP severity evaluation is used together with the modified Bayne–Klug classification to give more precise information about the functional capacity of each limb.
Severity grading at the different levels Severity points related to hand quality (H). Severity points are based on stiffness and flexion deficits of the MCP joints and associated camptodactyly or severe stiffness of the PIP joints. Other factors that influence the hand function are the presence and quality of the thumb, possible syndactylies and the learned pattern of pinching. Hand points from 0 to 10 are mainly given for stiffness of the MCP and PIP joints. The index to little fingers can sometimes be almost normal, but very often the finger quality is clearly compromised. The typical pattern is a
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3
Vilkki
Figure 1. The chart for recording the findings in radial dysplasia. Table 2. The mean values for severity points and the severity index according to severity group and point category in the series of 44 upper limbs with longitudinal radial deficiency. Group
Mild (0–8 points)
Moderate (9–16 points)
Severe (17–30 points)
n (%) Point category: H W P Mean severity index
8 (18%)
21 (48%)
1.1 3.8 0.9 5.8
3.5 5.8 2.2 11.5
15 (34%) 7.0 8.7 5.4 21.1
combination of MCP joint stiffness and PIP joint camptodactyly (Figure 2). The radial fingers are more commonly affected, while the little finger usually
looks almost normal. There may be stiffness of the MCP joints in some or all fingers, and passive flexion is often not possible beyond 40°. Typical
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The Journal of Hand Surgery (Eur) XXE(X)
Figure 2. Typical type IV radial deficiency with a hypoplastic thumb. Primarily scored as H5W6P2. Severity index 13 and moderate grade. After wrist correction, the thumb was stabilized with MCP joint fusion. This resulted in a strong pinch and very useful gripping ability.
camptodactylic fingers are a sign of extension deficit at the PIP joints. There may be lack of PIP flexion as well. Stiff finger joints will give 1 to 2 severity points, while an absence of a finger will give 2 points. Syndactyly between radial fingers will add points. When there is associated syndactyly (partial or complete) between the index and middle finger, 1 severity point is added. The pinching pattern or how the child uses the fingers when pinching an object is examined. Most patients without a thumb use the index–middle finger web for pinching. When the pinching pattern occurs at the ring–small web that is considered a less optimal sign and 1 point is added. This sign also suggests that the radial fingers are quite poorly functioning and that possible pollicization may lead to a useless pollicized index finger, unlike when the pinching pattern is originally at the index–middle web, which fortunately is much more common. Thumb absence or variable hypoplasia is a common finding in most upper limbs, but in cases of thrombocytopenia-absent radius syndrome, there may be a functional thumb and the radial wrist bones (trapezium, trapezoid and scaphoid) are better developed than in other types of radial deficiency. The same applies to a hypoplastic thumb, which can be reconstructed into a stable and useful thumb in some rare cases (Figure 2). That is why a deduction of 2 points is made from the overall severity score, when a useful and stable thumb with reasonable adductor function is available. Severity grading of wrist tightness (W). Severity points from 0 to 10 are given according to tightness of the radial deviation. This should be assessed
Figure 3. Wrist (W) points given according to radial deviation of the wrist. Two points for each 30° of radial deviation. Ulna bowing may add one or two additional points. Light pull from the fingers until the end-point is used during radiographic examination to demonstrate possible straightening and tightness of the wrist. There were 6 W-points owing to more than 60° tightness in this case.
using gentle traction on the hand while trying to move the hand into a more normal position or aligning it with forearm axis. The best achievable position or end point should be recorded. A radiograph should be taken to confirm the position into which the hand can be easily placed in relation to the axis of the forearm. The hand–forearm angle may have values from 0° to over 90° (Figure 3) and according to the tightness of radial deviation, 2 severity points are added for each 30° of remaining radial deviation or a maximum of 8 points. Ulna bowing sometimes contributes considerably to the radial deviation. Therefore 1 or 2 severity points can be added when the measured ulnar bow is between 20°–40° or over 40°, respectively (Figure 4). At the wrist level, the tightness of radial deviation depends on the radial-sided muscular abnormality, which is due to fusion of the tendons and ligaments or a fibrous anlage at the radial side of the forearm and wrist. However, many wrists are quite supple and the deforming force is easily overcome by the examiner’s light pull. Wrist tightness is not clearly related to the bone defect or the Bayne–Klug classification. Effect of early conservative treatment on severity. The treatment of wrist deformity should always be started immediately after birth, attempting to overcome the wrist tightness with conservative stretching and splinting. This treatment is clearly most effective during the first few months of life. A delay in splinting and stretching treatment may therefore have a
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Vilkki
Figure 5. An example of a proximal radial longitudinal dysplasia. No elbow motion, shoulder instability. Severity scoring primarily as H7W6P10. Severity index 23 and severe grade. Radiograph taken at age 1 year. Figure 4. Radiographic findings at the age of 5 years in a non-operatively treated type III radial dyplasia. Only two fingers are present; the little finger is normal and the combined radial finger or ‘superdigit’ is almost completely stiff. Marked ulnar bowing is combined with a proximal radioulnar synostosis. Severity scoring H7W4P1. Severity index 12 and moderate grade.
significant impact on ultimate outcome. When early treatment is neglected, the wrist tightness will quite rapidly worsen, which is why 2 extra severity points are given when these measures are omitted, or started after 6 months of age. Severity grading of proximal defects (P). Variable anomalies at the proximal forearm, elbow, arm and shoulder will also worsen the severity in many extremities with longitudinal radial deficiency and they may give an additional 0 to 10 points. Anomalies of the upper arm flexor muscles diminish the ability to flex the elbow. Defects at a proximal level are not uncommon; a poor or limited range of active or passive elbow motion and weakness of active elbow flexion are typical in many cases. This may be due to a lack of normal upper arm muscles; additionally, elbow flexion power may be poor due to severe wrist deformity, which leaves the forearm muscles abnormally slack. A limited range of active or passive gleno-humeral motion or signs of apparent instability of the shoulder may also be associated. A radiograph may show an intercalary or proximal defect of the humerus (Figure 5). Associated muscle defects around the shoulder and upper arm will make the gleno-humeral joint even more unstable, resulting in highly abnormal function.
Results Scores to characterize the severity of the examined limbs were obtained during outpatient visits. All findings were recorded before starting treatment. The affected limbs were divided into three groups
according to the values of the severity index (Table 2): mild (1–8); moderate (9–16); and severe, when 17 or more severity points were collected. In the mild group the hand quality was usually good with H-points from 0 to 2 (Table 2). The fingers were mostly functioning normally and pinch was strong between the index and middle fingers. The range of wrist (W) points was from 2 to 5. Mild bowing was found in two cases. In the mild group proximal (P) defects scoring from 0 to 2 points were found in half of the cases. Almost half (48%) of the examined extremities scored as moderate (Table 2). The range of H-points was 0 to 8. Similarly W-points were given from 3 to 8. Proximal defects were found in 20 of 21 extremities but scored only from 0 to 5 additional P-severity points. However, bowing of the ulna was most common in this group as 12 limbs had a clear bow. The bow was over 40° in seven limbs. The severe group consisted of 15 (34%) severely abnormal limbs (Table 2). Hand quality was commonly low with H-points given from 5 to 9. Also the wrist was severely involved with W-points from 6 to10. All these limbs scored proximal points from 2 to 10. These dysplastic limbs had impaired function due to the poor quality of the fingers, tightness of the wrist and additional proximal defects (Figure 6). Most fingers were stiff, pinch was weak, the lack of intrinsic muscle power to the radial fingers was usually clear and the usage pattern was often at the most ulnar finger web. Four patients in the severe group had proximal humeral defects and belonged to the category of ‘proximal radial longitudinal dysplasia’. The mean severity index was 24.8 points in those limbs. The mean severity index correlated well with different types of longitudinal radial deficiency although the number of limbs with types II, III and V was very small; the correlation was clearest or almost linear in the H-point category (Table 3). Similarly the severity grade was in accord with the type of radial deficiency (Table 4).
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The Journal of Hand Surgery (Eur) XXE(X)
Figure 6. An example of a severe grade and type IV radial deficiency. The fingers are poor in quality with partial syndactyly at the index-long web. Extremely tight radial deviation and very poor elbow flexion. Severity score H9W10P3 and severity index 22. Table 3. Severity index and different severity points and their mean values according to the type of radial dysplasia in the series of 44 upper limbs with longitudinal radial deficiency. Type
n
II III IV V
3 8 29 4
Severity index
H-points
W-points
P-points
Range (mean)
Range (mean)
Range (mean)
Range (mean)
2–10 (6.0) 5–12 (9.0) 4–23 (14.4) 23–26 (24.8)
0–3 (1.3) 0–7 (2.8) 0–9 (4.6) 5–8 (7.3)
2–4 (3.0) 3–8 (5.0) 2–10 (7.0) 6–8 (7.5)
0–3 (1.7) 0–2 (1.3) 0–7 (2.8) 10–10 (10.0)
Discussion High variability in the quality of fingers, differences in wrist tightness and existence of other associated anatomical defects in the upper limbs of patients with radial deficiency has led to confusion when assessing the results of different treatments. In order to improve the comparability of limbs with Bayne– Klug types II, III and IV deficiencies, we have tried to analyse the variable abnormal anatomical and functional findings, and to grade the hand quality and allround severity of the deformity. Using the presented severity grading system, the upper limbs could be divided into more comparable subgroups. The HWP score gives information about the extent of the lesion and the functional quality of the different parts of the upper limb. This helps in forming an individual treatment plan and in setting the goals that might be possible to achieve. The correction of the wrist deformity may be relatively easy in the mild group, as the initial alignment of the wrist is quite acceptable. In the moderate group the hand quality is compromised (more than 3 H-points) in half of the cases and the wrist is tight (more than 5 W-points) in
Table 4. Severity grades according to the type of radial dysplasia in the series. Type
n
Mild
Moderate
Severe
II III IV V
3 8 29 4
2 3 3 —
1 5 15 —
— — 11 4
60% of extremities. Mild proximal defects are found, mainly manifest as mild weakness of elbow flexion. Additionally an ulnar bow was a common finding in over half the limbs in this group. Wrist alignment is often more difficult than in the mild group. The results of pollicization are affected by the poor quality of fingers or the high H-points scores. The severe group typically consists of hands with multiple stiff finger units (over 5 H-points) and contracted wrists (over 6 W-points), together with poor elbow or shoulder function (over 5 P-points in one-third). The alignment of the wrist may require a surgical soft tissue release operation owing to wrist tightness. In some poor quality hands a pollicization procedure may not be
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Vilkki possible due to a lack of intrinsic muscles. In the most severe group concomitant proximal lesions are common and may greatly impair the function of the whole limb. Luckily a severity index much more than 20 points is seldom seen. In these most difficult cases the prospect of improving hand function by wrist alignment or pollicization is often questionable or the procedures are clearly contraindicated. Sometimes the only powerful grip is between the radially deviated and poorly functioning hand and the upper arm during elbow and wrist flexion (Figure 6). The muscle loss in many forearms may be extensive and does not allow active wrist extension before or after treatment. Successful conservative treatment may improve the severity score. In neglected cases, the lack of initial conservative treatment will increase the severity index. The growth of the child may worsen the severity rapidly during the first 3 years of life in untreated cases and the wrist position will become very tightly deformed. Post-operatively, the severity index can improve from the initial stage, mainly due to wrist correction. Certain complications, like late recurrence of radial deviation after surgical treatment, may raise the severity index values. The severity scoring system should always be used together with the Bayne–Klug classification. The severity scoring adds functional elements to the previous classification, but both are important for proper diagnosis and in the planning of treatment. It must be noted that the scoring system presented here has some weakness in expressing the most severe proximal lesions. A large intercalary defect of the proximal humerus alone results in a maximum of ten P-points because the upper arm and shoulder joint are so defective that the elbow is also nonfunctional (Figure 4). Another weakness of the scoring system is that measuring the tightness of radial deviation remains partly subjective because the force to align the wrist during examination is not standardized. However, the examiner can feel a clear endpoint when trying to align the radial deviation firmly but without causing pain and is able to allocate the appropriate points as the deviation is measured with 30° steps. Furthermore, the scoring method has so far been used systematically only in our unit, so there has been no comparison with its use in other units. However, its reproducibility seems to be quite reliable because of the ability to score elements easily. Most of the defects listed in Figure 1 have just one meaning and therefore the scoring should be reproducible by any examining physician. This has been tested by repeating clinical assessments and checking the scoring at different times, for example during repeat outpatient clinics, and in the ward before operative procedures. The score was always checked at least twice. The scoring system has also been
improved over the years, with experience in trying to find the right balance for the weights of the individual defects and the scores. This scoring method is considered to be helpful in selecting between different treatment options and optimizing the timing of surgical procedures. Grading into the different severity categories will also help in assessing the results of treatment in different patients, because limbs with similar features can be compared. The benefit of this type of assessment and scoring system will be seen in the future only with longer-term generalized use. Acknowledgements I would like to acknowledge Dr Brett McClelland, from Newcastle, Australia, an International Bone Research Association (IBRA) fellow at the time of the study at Department of Hand and Microsurgery in Tampere University Hospital, Tampere Finland, for his invaluable help in editing the manuscript.
Conflict of interests None declared.
Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
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