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Congenital constriction band syndrome and transverse deficiency
CONGENITAL
CONSTRICTION TRANSVERSE
BAND DEFICIENCY
SYNDROME
AND
T. OGINO and Y. SAITOU From the Department of Orthopaedic Surgery, Hokkaido University, Sapporo, Japan
To distinguish the clinical features of amputation due to congenital constriction band syndrome from those of transverse deficiency, 42 cases of constriction band syndrome and 27 cases of transverse deficiency were analysed. All the transverse deficiencies were unilateral. Two cases of transverse deficiency were associated with pectoral muscle absence, whereas amputation from constriction band syndrome was often associated with similar anomalies in other parts of the body. The level of amputation of transverse deficiency was more proximal than that of constriction band syndrome. Rudimentary fingers and/or nails were common in transverse deficiency but there were few in constriction band syndrome. Various degrees of bone hypoplasia existed in adjacent fingers or in a proximal part of the affected limb in transverse deficiency, but there were no such findings in constriction band syndrome. Congenital constriction band syndrome has four different phenotypes (expressions of anomalies) - that is, constriction band, lymphoedema, acrosyndactyly and amputation (Figure 1). Amputation is the most severe phenotype of constriction band syndrome. There are many experimental and clinical studies investigating the teratogenetic mechanisms of this anomaly (Streeter, 1930; Brown, 1957; Jost, 1963; Torpin and Faulkner, 1966; Kino, 1972). Recently the theory that constriction band syndrome is caused by the disturbance of the handplate and/or footplate after the digital radiations are formed has been supported by important experimental evidence (Kino, 1975). However, the main deformity in failure of development of transverse type is also amputation of the limb. These transverse deficiencies range from aphalangia to amelia and -are sometimes referred to as so-called congenital amputation, developmental arrest (Patterson, 1961), limb bud arrest (Clessner, 1963). Congenital amputation is a misleading term and it should not be confused with intrauterine amputation which is a phenotype of constriction band syndrome (Swanson, 1981). The cause of transverse deficiency is considered to be different from amputation due to constriction band syndrome, because the transverse stump represents an arrest of formation in the limb anlage (Swanson, 1976, 1981) and intrauterine amputation may be caused by disturbance of the foetus after the digital radiations have formed (Kino, 1975). For clinical, genetic and epidemiological studies, the distinction between amputation from constriction band syndrome and transverse deficiency should be made, though in some cases this is very difficult. The purpose of this analysis is to attempt to clarify the characteristics of these two types of amputations, which are considered to be caused by different teratogenetic mechanisms. Received for publication 14th November, 1986. T Ogino, M.D. Department of Orthopaedic Surgery, School of Medicine, University, Kitaku, Kita-15, nishi-7, Sapporo, O&l Japan.
VOL.
12-B No. 3 OCTOBER
1987
Hokkaido
Material and methods We have analysed 42 cases of constriction band syndrome and 27 cases of transverse deficiency, all of which had been examined in the Department of Orthopaedic Surgery of the Hokkaido University Hospital over the last 18 years. To clarify the clinical features of constriction band syndrome, we analysed sex, affected side, and associated anomalies. Then we selected 26 cases (33 hands) that had an amputation phenotype in constriction band syndrome. We compared the sex, affected side, affected fingers, level of amputation, external appearance of the amputation stump, and X-ray appearance of the amputation stump in cases with amputation due to constriction band syndrome with those of transverse deficiency in order to clarify the difference between the clinical features of these two types of defect. Results CLINICAL FEATURES SYNDROME
OF CONSTRICTION
BAND
Of 42 cases of constriction band syndrome, 23 cases were male and 19 cases were female. The right hand was affected in six cases, the left hand in five cases, and both hands in 31 cases. In constriction band syndrome, both hands were affected in nearly three out of four cases. The form which the abnormality took is shown in Table 1. Then the combinations of these phenotypes appearing in the same hand were analysed. The various combinations of these phenotypes in the same hand are shown in Table 2. Associated anomalies in the lower limbs were observed in 24 cases as follows: toe amputation in 15 cases, ring constriction of the toe in eight cases, acrosyndactyly of the toe in six cases, club foot in five cases, ring constriction of the lower leg in three cases, curved lower leg with ring constriction in one case, and lower leg amputation in one case. 343
T. OGINO
Fig. 1
Four phenotypes B: Lymphoedema
Y. SAITOU
of congenital constriction band syndrome. A: Constriction ring of the forearm. of the index and middle fingers. of the thumb and acrosyndactyly of the central finger rays. C: Amputation TABLE
The incidence
AND
of each phenotype
1 of congenital
constriction
49 33 18 2
Acrosyndactyly Amputation Constriction band iymphoedema with ring constriction
hands in seven cases. In transverse deficiency, the right hand was affected in eight cases and the left hand in 19 cases. Transverse deficiency was unilateral in all cases and the left hand was affected predominantly (Table 3).
band
limbs limbs limbs limbs
TABLE The sex incidence
TABLE The combination
2
of phenotypes of congenital constriction the same upper limb
Acrosyndactyly alone Amputation alone Acrosyndactyly & Amputation Acrosyndactyiy & Ring Ring alone Amputation & Ring Lymphoedema & Ring Acrosyndactyly, Amputation & Lymphoedema Acrosyndactyly, Amputation & Ring
28 14 12 6 5 5
band syndrome
hands hands hands hands hands hands 1 hand 1 hand 1 hand
in
(38.4%) (19.2%) (16.4%) (8.2%) (6.8%) (6.8%) (1.4%) (1.4%) (1.4%)
3
and affected side of amputation in congenital band syndrome and transverse deficiency Constriction band syndrome (with amputation)
constriction
Transverse
deficiency
sex incidence
male female affected
13 cases i3 cases
14 cases 13 cases
12 cases I cases I cases
8 cases i9 cases 0
side
right left bilateral
____
-
COMPARISON OF AMPUTATION IN CONSTRICTION BAND SYNDROME AND TRANSVERSE DEFICIENCY We selected the 26 cases (33 hands) of constriction band syndrome which had resulted in amputation and compared them with 27 cases (27 hands) of transverse deficiency.
Affected fingers There were no differences in the fingers affected between the two anomalies (Table 4). The central finger rays were affected more frequently and the thumb was affected less frequently in both anomalies. However, proximal levels of amputation were more common in transverse deficiency than in constriction band syndrome.
Clinical features of amputation in constrictian band syndrome and transverse deficiency There were 13 male and 13 female cases of constriction band syndrome, and 14 male and 13 female cases of transverse deficiency. Thus there is not much difference in the sex incidence of both anomalies. In amputation from constriction band syndrome, the right hand was affected in 12 cases, the left hand in seven cases and both
Level of amputation in each affected finger The level of amputation was defined as the name of the preserved bone at the stump. The level in constriction band syndrome was distal to the proximal phalanx in most cases, while in transverse deficiency it was usually proximal to the proximal phalanx (Table 5), though in both types some amputations were through the proximal phalanx.
344
THE JOtiRNAL
OF HAND
SURGERY
CONSTRICTION
Affected
Affected
partin
amputation
TABLE 4 of congenital constriction congenital amputation Constriction band syndrome (amputation)
parts
Thumb Index finger Middle finger Ring finger Little finger Wrist Forearm
6 fingers
15 fingers 20 fingers 20 fingers 10 fingers 1 limb 0
TABLE 5 in congenital constriction congenital amputation
The level of amputation
Constriction band syndrome (amputation)
Level of amputation of each finger
Distal phalanx Middle phalanx Proximal phalanx Metacarpal bone Carpal bone
17 fingers 34 fingers 20 fingers 0 0
BAND
SYNDROME
band syndrome
Transverse
and
Existence Existence
band syndrome
and
Transverse
deficiency
fingers fingers fingers fingers
Roentgenographicfeatures and appearancesof the amputationstump We classified roentgenograms of the amputation stump into four types: disarticulation, small fragment, tapering and transverse (Figure 2). In constriction band syndrome tapering was most frequently observed
&b
Fig. 2 A: B: C: D:
VOL.
Roentgenograms of the stump of amputation. Disarticulation type. Small fragment type. Tapering type. Transverse type.
12-B No. 3 OCTOBER
1987
TABLE 6 and roentgenograms
of rudimentary of rudimentary
nail finger
Disarticulation Small fragment Tapering Transverse
In amputation due to constriction band syndrome, rudimentary fingers at the stump were observed only in two hands and rudimentary nails also only in two hands. In transverse deficiency, rudimentary fingers were observed in 19 hands and rudimentary nails in 12 hands (Table 6). Rudimentary nails and fingers rarely appeared at the amputation stump of constriction band syndrome, while they appeared frequently in transverse deficiency.
&
appearance
Roentgenograms of the stump of amputation
Rudimentaryfinger and nail in the amputation stump
C
External
DEFICIENCY
deficiency
8 fingers 18 fingers 21 fingers 21 fingers 19 fingers 5 limbs 1 limb
0 2 22 51 18
AND TRANSVERSE
D bzzi
of the stump of amputation Constriction band syndrome (amputation)
Transverse deficiency
2 fingers
1 finger
12 fingers 19 fingers
Constriction band syndrome
Transverse deficiency
14 bones 15 bones 28 bones 16 bones
69 bones 9 bones
10 bones 7 bones
whereas in transverse deficiency, disarticulation was much the commonest finding (Table 6). In transverse deficiency, various degrees of bone hypoplasia were observed in the adjacent fingers and the proximal part of the amputated fingers (Figure 3), but there were no such findings in constriction band syndrome. The features of roentgenograms of amputation due to constriction band syndrome were identical to those of traumatic amputation (Figure 4).
Associatedanomalies Amputation in constriction band syndrome was often associated with other phenotypes of constriction band syndrome. The details of associated anomalies in constriction band syndrome have already been described. In transverse deficiency, the only associated abnormality was absence of the pectoral muscle in two cases. Discussion There are two types of congenital anomalies of the upper extremity manifested by an amputation stump in limbs (Figures 3 and 4). One is a type of congenital constriction band syndrome and the other is transverse failure of development. The former is caused by disturbance of the hand plate after the fingers are formed. The shape of the amputation stump in constriction band syndrome is considered to be similar to that in traumatic amputation. This type of amputation is described as spontaneous intrauterine amputation, true amputation or true foetal amputation (Streeter, 1930; Patterson, 1961; Glessner, 1963; Swanson, 1976). The latter, transverse deficiency, is an anomaly in which the fingers or the limbs themselves are not formed at all. If the upper limb is compared to a tree, an amputation in constriction band syndrome is like a tree from which the sprout is picked after budding, while transverse deficiency is considered to take place because the bud does not come out or stops growing before budding. 345
T. OGINO
Fig. 3
AND
Y. SAITOIJ
Transverse deficiency of the left hand. Hypoplasia of the bone (:an be seen in the adjacent fingers and the proximal part of the amputated fingers, when compared to the normal right hand.
However, it is true that in practice there are amputation cases when we are in doubt whether the case belongs to constriction band syndrome or transverse deficiency. There are many uncertain points about the names and the clinical features of these amputations. Because of this, some general orthopaedic and hand surgeons do not give much consideration to the fundamental differences between these anomalies and diagnose them simply as congenital absence. It is, however, important to distinguish between these two causes, because the teratogenetic mechanisms of these amputations are different.
2
iissociated anomalies in constriction band syndrome were common and were limited to phenotypes of constriction band syndrome, such as constriction band, amputation and acrosyndactyly. In contrast, in transverse deficiency, only two cases were associated with pectoral muscle absence and no other associated anomalies were recognised.
3
The distribution of amputat fingers is almost the same in both anomalies, but putation in constriction band syndrome usually occurred distal to the proximal phalanges whereas in transverse deficiency amputation occurred frequently at metacarpal level or more proximally. Amputations elbow joint were also observe in transverse deficiency.
4
Rudimentary fingers and/or nails were seen in only a few cases of constriction band syndrome, but commonly in transverse deficiency.
From our clinical analysis, the following are the differences between clinical features of amputations in constriction band syndrome and transverse deficiency. 1
346
In constriction band syndrome, either hand is equally likely to be affected and bilateral cases also exist. In transverse deficiency, all cases are unilateral, and the left side is affected more often.
THE JOURNAL
OF HAND
SURGERY
CONSTRICTION
Fig. 4
5
Amputation
due to congenital
constriction
BAND
band syndrome.
SYNDROME
AND
No hypoplasia
of the bones was seen in the proximal
There is no settled tendency in the roentgenographic appearance of the amputation stump in constriction band syndrome, but in transverse deficiency, the majority of cases are disarticulation type. As for other characteristics of the roentgenograms, in transverse deficiency, various degrees of bone hypoplasia exist in adjacent fingers and/or in the proximal part of the affected limb, but no such findings were observed in constriction band syndrome.
TRANSVERSE
DEFICIENCY
part of the amputated
fingers.
limb, and one or more phenotypes of constriction band syndrome appears frequently in an opposite upper limb or lower limbs.
From the results of this analysis, it appears that there is a very distinct difference between these two anomalies. This fact might suggest that the teratogenetic mechanisms of these anomalies are definitely different.
When only amputation is recognised in the examined upper limb, but if other limbs have constriction band, acrosyndactyly or Iymphoedema, the case should be diagnosed as constriction band syndrome. However, when amputation is the only deformity which the patient has, the differential diagnosis between constriction band syndrome and transverse deficiency must be made from the shape of the amputation stump. In such a case, the existence of rudimentary fingers or nails is evidence that the amputation is transverse deficiency, as Glessner (1963) and Brown (1957) point out.
When we have a patient who has an anomaly with amputation, the first approach in differential diagnosis is to examine whether his or her case can be decided as constriction band syndrome or not. From the results of our analysis, it is clear that in constriction band syndrome an affected limb often has two or more phenotypes of constriction band syndrome in the same
Roentgenographic examination can also help in the differential diagnosis. The amputation stump in constriction band syndrome is in the distal part of the finger and the stump seems to have been cut off by some cause and is similar to that of amputation by trauma. In contrast, the level of transverse deficiency is more proximal, and hypoplasia of the bone, that proximally
VOL.
12-B No. 3 OCTOBER
1987
347
T. OGINO
becomes more marked as it extends distally. We confirmed that the existence of hypoplasia of the bone is a fundamental difference between amputation of constriction band syndrome and transverse deficiency. In the German literature, symbrachydactyly is considered to be an anomaly based on hypoplasia of the bone. Blauth and Gekeler (1971) reported a process in which a deficiency of middle phalanges in the central finger rays develops to form a diphalangeal or monophalangeal type of symbrachydactyly. As hypoplasia of the bone develops gradually to the proximal part in the same mechanism of formation of symbrachydactyly, it eventually forms an atypical cleft hand, in which hypoplasia occurs mainly in the central finger rays, or congenital amputation, in which hypoplasia occurs in all fingers. They suggest that it is appropriate that short webbed finger, atypical cleft hand, and transverse deficiency can be put into the same teratogenetic category. They propose that these anomalies should be called symbrachdactyly. Now congenital constriction band syndrome is considered to be an independent entity of congenital upper limb anomaly. In order to support that symbrachydactyly, including short webbed finger, atypical cleft hand and congenital amputation, is also an independent teratogenetic entity, further clinical and experimental analyses should be made.
348
AND
Y. SAITOU
Acknowledgment The authors express their sincere thanks to Professor Kiyosh; Kaneda, Department of Orthopaedic Surgery, Hokkaido ilniversity, School of Medicine, Sapporo, Japan, for suggestion and advice throughout this invesfigatlon.
References BLAUTH, W. and GEKELER, J. (1971). Zilr Morphologic und Klassifikanon der Symbrachydaktylie. Handchirurgie, 3: 4: 123-138. BROWN, D. (1957). The Pathology of Congenitai Ring
THE
JOURNAL
OF HAND
SURGERY
CONSTRICTION TRANSVERSE
BAND DEFICIENCY
SYNDROME
AND
T. OGINO and Y. SAITOU From the Department of Orthopaedic Surgery, Hokkaido University, Sapporo, Japan
To distinguish the clinical features of amputation due to congenital constriction band syndrome from those of transverse deficiency, 42 cases of constriction band syndrome and 27 cases of transverse deficiency were analysed. All the transverse deficiencies were unilateral. Two cases of transverse deficiency were associated with pectoral muscle absence, whereas amputation from constriction band syndrome was often associated with similar anomalies in other parts of the body. The level of amputation of transverse deficiency was more proximal than that of constriction band syndrome. Rudimentary fingers and/or nails were common in transverse deficiency but there were few in constriction band syndrome. Various degrees of bone hypoplasia existed in adjacent fingers or in a proximal part of the affected limb in transverse deficiency, but there were no such findings in constriction band syndrome. Congenital constriction band syndrome has four different phenotypes (expressions of anomalies) - that is, constriction band, lymphoedema, acrosyndactyly and amputation (Figure 1). Amputation is the most severe phenotype of constriction band syndrome. There are many experimental and clinical studies investigating the teratogenetic mechanisms of this anomaly (Streeter, 1930; Brown, 1957; Jost, 1963; Torpin and Faulkner, 1966; Kino, 1972). Recently the theory that constriction band syndrome is caused by the disturbance of the handplate and/or footplate after the digital radiations are formed has been supported by important experimental evidence (Kino, 1975). However, the main deformity in failure of development of transverse type is also amputation of the limb. These transverse deficiencies range from aphalangia to amelia and -are sometimes referred to as so-called congenital amputation, developmental arrest (Patterson, 1961), limb bud arrest (Clessner, 1963). Congenital amputation is a misleading term and it should not be confused with intrauterine amputation which is a phenotype of constriction band syndrome (Swanson, 1981). The cause of transverse deficiency is considered to be different from amputation due to constriction band syndrome, because the transverse stump represents an arrest of formation in the limb anlage (Swanson, 1976, 1981) and intrauterine amputation may be caused by disturbance of the foetus after the digital radiations have formed (Kino, 1975). For clinical, genetic and epidemiological studies, the distinction between amputation from constriction band syndrome and transverse deficiency should be made, though in some cases this is very difficult. The purpose of this analysis is to attempt to clarify the characteristics of these two types of amputations, which are considered to be caused by different teratogenetic mechanisms. Received for publication 14th November, 1986. T Ogino, M.D. Department of Orthopaedic Surgery, School of Medicine, University, Kitaku, Kita-15, nishi-7, Sapporo, O&l Japan.
VOL.
12-B No. 3 OCTOBER
1987
Hokkaido
Material and methods We have analysed 42 cases of constriction band syndrome and 27 cases of transverse deficiency, all of which had been examined in the Department of Orthopaedic Surgery of the Hokkaido University Hospital over the last 18 years. To clarify the clinical features of constriction band syndrome, we analysed sex, affected side, and associated anomalies. Then we selected 26 cases (33 hands) that had an amputation phenotype in constriction band syndrome. We compared the sex, affected side, affected fingers, level of amputation, external appearance of the amputation stump, and X-ray appearance of the amputation stump in cases with amputation due to constriction band syndrome with those of transverse deficiency in order to clarify the difference between the clinical features of these two types of defect. Results CLINICAL FEATURES SYNDROME
OF CONSTRICTION
BAND
Of 42 cases of constriction band syndrome, 23 cases were male and 19 cases were female. The right hand was affected in six cases, the left hand in five cases, and both hands in 31 cases. In constriction band syndrome, both hands were affected in nearly three out of four cases. The form which the abnormality took is shown in Table 1. Then the combinations of these phenotypes appearing in the same hand were analysed. The various combinations of these phenotypes in the same hand are shown in Table 2. Associated anomalies in the lower limbs were observed in 24 cases as follows: toe amputation in 15 cases, ring constriction of the toe in eight cases, acrosyndactyly of the toe in six cases, club foot in five cases, ring constriction of the lower leg in three cases, curved lower leg with ring constriction in one case, and lower leg amputation in one case. 343
T. OGINO
Fig. 1
Four phenotypes B: Lymphoedema
Y. SAITOU
of congenital constriction band syndrome. A: Constriction ring of the forearm. of the index and middle fingers. of the thumb and acrosyndactyly of the central finger rays. C: Amputation TABLE
The incidence
AND
of each phenotype
1 of congenital
constriction
49 33 18 2
Acrosyndactyly Amputation Constriction band iymphoedema with ring constriction
hands in seven cases. In transverse deficiency, the right hand was affected in eight cases and the left hand in 19 cases. Transverse deficiency was unilateral in all cases and the left hand was affected predominantly (Table 3).
band
limbs limbs limbs limbs
TABLE The sex incidence
TABLE The combination
2
of phenotypes of congenital constriction the same upper limb
Acrosyndactyly alone Amputation alone Acrosyndactyly & Amputation Acrosyndactyiy & Ring Ring alone Amputation & Ring Lymphoedema & Ring Acrosyndactyly, Amputation & Lymphoedema Acrosyndactyly, Amputation & Ring
28 14 12 6 5 5
band syndrome
hands hands hands hands hands hands 1 hand 1 hand 1 hand
in
(38.4%) (19.2%) (16.4%) (8.2%) (6.8%) (6.8%) (1.4%) (1.4%) (1.4%)
3
and affected side of amputation in congenital band syndrome and transverse deficiency Constriction band syndrome (with amputation)
constriction
Transverse
deficiency
sex incidence
male female affected
13 cases i3 cases
14 cases 13 cases
12 cases I cases I cases
8 cases i9 cases 0
side
right left bilateral
____
-
COMPARISON OF AMPUTATION IN CONSTRICTION BAND SYNDROME AND TRANSVERSE DEFICIENCY We selected the 26 cases (33 hands) of constriction band syndrome which had resulted in amputation and compared them with 27 cases (27 hands) of transverse deficiency.
Affected fingers There were no differences in the fingers affected between the two anomalies (Table 4). The central finger rays were affected more frequently and the thumb was affected less frequently in both anomalies. However, proximal levels of amputation were more common in transverse deficiency than in constriction band syndrome.
Clinical features of amputation in constrictian band syndrome and transverse deficiency There were 13 male and 13 female cases of constriction band syndrome, and 14 male and 13 female cases of transverse deficiency. Thus there is not much difference in the sex incidence of both anomalies. In amputation from constriction band syndrome, the right hand was affected in 12 cases, the left hand in seven cases and both
Level of amputation in each affected finger The level of amputation was defined as the name of the preserved bone at the stump. The level in constriction band syndrome was distal to the proximal phalanx in most cases, while in transverse deficiency it was usually proximal to the proximal phalanx (Table 5), though in both types some amputations were through the proximal phalanx.
344
THE JOtiRNAL
OF HAND
SURGERY
CONSTRICTION
Affected
Affected
partin
amputation
TABLE 4 of congenital constriction congenital amputation Constriction band syndrome (amputation)
parts
Thumb Index finger Middle finger Ring finger Little finger Wrist Forearm
6 fingers
15 fingers 20 fingers 20 fingers 10 fingers 1 limb 0
TABLE 5 in congenital constriction congenital amputation
The level of amputation
Constriction band syndrome (amputation)
Level of amputation of each finger
Distal phalanx Middle phalanx Proximal phalanx Metacarpal bone Carpal bone
17 fingers 34 fingers 20 fingers 0 0
BAND
SYNDROME
band syndrome
Transverse
and
Existence Existence
band syndrome
and
Transverse
deficiency
fingers fingers fingers fingers
Roentgenographicfeatures and appearancesof the amputationstump We classified roentgenograms of the amputation stump into four types: disarticulation, small fragment, tapering and transverse (Figure 2). In constriction band syndrome tapering was most frequently observed
&b
Fig. 2 A: B: C: D:
VOL.
Roentgenograms of the stump of amputation. Disarticulation type. Small fragment type. Tapering type. Transverse type.
12-B No. 3 OCTOBER
1987
TABLE 6 and roentgenograms
of rudimentary of rudimentary
nail finger
Disarticulation Small fragment Tapering Transverse
In amputation due to constriction band syndrome, rudimentary fingers at the stump were observed only in two hands and rudimentary nails also only in two hands. In transverse deficiency, rudimentary fingers were observed in 19 hands and rudimentary nails in 12 hands (Table 6). Rudimentary nails and fingers rarely appeared at the amputation stump of constriction band syndrome, while they appeared frequently in transverse deficiency.
&
appearance
Roentgenograms of the stump of amputation
Rudimentaryfinger and nail in the amputation stump
C
External
DEFICIENCY
deficiency
8 fingers 18 fingers 21 fingers 21 fingers 19 fingers 5 limbs 1 limb
0 2 22 51 18
AND TRANSVERSE
D bzzi
of the stump of amputation Constriction band syndrome (amputation)
Transverse deficiency
2 fingers
1 finger
12 fingers 19 fingers
Constriction band syndrome
Transverse deficiency
14 bones 15 bones 28 bones 16 bones
69 bones 9 bones
10 bones 7 bones
whereas in transverse deficiency, disarticulation was much the commonest finding (Table 6). In transverse deficiency, various degrees of bone hypoplasia were observed in the adjacent fingers and the proximal part of the amputated fingers (Figure 3), but there were no such findings in constriction band syndrome. The features of roentgenograms of amputation due to constriction band syndrome were identical to those of traumatic amputation (Figure 4).
Associatedanomalies Amputation in constriction band syndrome was often associated with other phenotypes of constriction band syndrome. The details of associated anomalies in constriction band syndrome have already been described. In transverse deficiency, the only associated abnormality was absence of the pectoral muscle in two cases. Discussion There are two types of congenital anomalies of the upper extremity manifested by an amputation stump in limbs (Figures 3 and 4). One is a type of congenital constriction band syndrome and the other is transverse failure of development. The former is caused by disturbance of the hand plate after the fingers are formed. The shape of the amputation stump in constriction band syndrome is considered to be similar to that in traumatic amputation. This type of amputation is described as spontaneous intrauterine amputation, true amputation or true foetal amputation (Streeter, 1930; Patterson, 1961; Glessner, 1963; Swanson, 1976). The latter, transverse deficiency, is an anomaly in which the fingers or the limbs themselves are not formed at all. If the upper limb is compared to a tree, an amputation in constriction band syndrome is like a tree from which the sprout is picked after budding, while transverse deficiency is considered to take place because the bud does not come out or stops growing before budding. 345
T. OGINO
Fig. 3
AND
Y. SAITOIJ
Transverse deficiency of the left hand. Hypoplasia of the bone (:an be seen in the adjacent fingers and the proximal part of the amputated fingers, when compared to the normal right hand.
However, it is true that in practice there are amputation cases when we are in doubt whether the case belongs to constriction band syndrome or transverse deficiency. There are many uncertain points about the names and the clinical features of these amputations. Because of this, some general orthopaedic and hand surgeons do not give much consideration to the fundamental differences between these anomalies and diagnose them simply as congenital absence. It is, however, important to distinguish between these two causes, because the teratogenetic mechanisms of these amputations are different.
2
iissociated anomalies in constriction band syndrome were common and were limited to phenotypes of constriction band syndrome, such as constriction band, amputation and acrosyndactyly. In contrast, in transverse deficiency, only two cases were associated with pectoral muscle absence and no other associated anomalies were recognised.
3
The distribution of amputat fingers is almost the same in both anomalies, but putation in constriction band syndrome usually occurred distal to the proximal phalanges whereas in transverse deficiency amputation occurred frequently at metacarpal level or more proximally. Amputations elbow joint were also observe in transverse deficiency.
4
Rudimentary fingers and/or nails were seen in only a few cases of constriction band syndrome, but commonly in transverse deficiency.
From our clinical analysis, the following are the differences between clinical features of amputations in constriction band syndrome and transverse deficiency. 1
346
In constriction band syndrome, either hand is equally likely to be affected and bilateral cases also exist. In transverse deficiency, all cases are unilateral, and the left side is affected more often.
THE JOURNAL
OF HAND
SURGERY
CONSTRICTION
Fig. 4
5
Amputation
due to congenital
constriction
BAND
band syndrome.
SYNDROME
AND
No hypoplasia
of the bones was seen in the proximal
There is no settled tendency in the roentgenographic appearance of the amputation stump in constriction band syndrome, but in transverse deficiency, the majority of cases are disarticulation type. As for other characteristics of the roentgenograms, in transverse deficiency, various degrees of bone hypoplasia exist in adjacent fingers and/or in the proximal part of the affected limb, but no such findings were observed in constriction band syndrome.
TRANSVERSE
DEFICIENCY
part of the amputated
fingers.
limb, and one or more phenotypes of constriction band syndrome appears frequently in an opposite upper limb or lower limbs.
From the results of this analysis, it appears that there is a very distinct difference between these two anomalies. This fact might suggest that the teratogenetic mechanisms of these anomalies are definitely different.
When only amputation is recognised in the examined upper limb, but if other limbs have constriction band, acrosyndactyly or Iymphoedema, the case should be diagnosed as constriction band syndrome. However, when amputation is the only deformity which the patient has, the differential diagnosis between constriction band syndrome and transverse deficiency must be made from the shape of the amputation stump. In such a case, the existence of rudimentary fingers or nails is evidence that the amputation is transverse deficiency, as Glessner (1963) and Brown (1957) point out.
When we have a patient who has an anomaly with amputation, the first approach in differential diagnosis is to examine whether his or her case can be decided as constriction band syndrome or not. From the results of our analysis, it is clear that in constriction band syndrome an affected limb often has two or more phenotypes of constriction band syndrome in the same
Roentgenographic examination can also help in the differential diagnosis. The amputation stump in constriction band syndrome is in the distal part of the finger and the stump seems to have been cut off by some cause and is similar to that of amputation by trauma. In contrast, the level of transverse deficiency is more proximal, and hypoplasia of the bone, that proximally
VOL.
12-B No. 3 OCTOBER
1987
347
T. OGINO
becomes more marked as it extends distally. We confirmed that the existence of hypoplasia of the bone is a fundamental difference between amputation of constriction band syndrome and transverse deficiency. In the German literature, symbrachydactyly is considered to be an anomaly based on hypoplasia of the bone. Blauth and Gekeler (1971) reported a process in which a deficiency of middle phalanges in the central finger rays develops to form a diphalangeal or monophalangeal type of symbrachydactyly. As hypoplasia of the bone develops gradually to the proximal part in the same mechanism of formation of symbrachydactyly, it eventually forms an atypical cleft hand, in which hypoplasia occurs mainly in the central finger rays, or congenital amputation, in which hypoplasia occurs in all fingers. They suggest that it is appropriate that short webbed finger, atypical cleft hand, and transverse deficiency can be put into the same teratogenetic category. They propose that these anomalies should be called symbrachdactyly. Now congenital constriction band syndrome is considered to be an independent entity of congenital upper limb anomaly. In order to support that symbrachydactyly, including short webbed finger, atypical cleft hand and congenital amputation, is also an independent teratogenetic entity, further clinical and experimental analyses should be made.
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Acknowledgment The authors express their sincere thanks to Professor Kiyosh; Kaneda, Department of Orthopaedic Surgery, Hokkaido ilniversity, School of Medicine, Sapporo, Japan, for suggestion and advice throughout this invesfigatlon.
References BLAUTH, W. and GEKELER, J. (1971). Zilr Morphologic und Klassifikanon der Symbrachydaktylie. Handchirurgie, 3: 4: 123-138. BROWN, D. (1957). The Pathology of Congenitai Ring
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