Osteochondritis dissecans and brachymesophalangia: A hereditary syndrome A kindred with an unusual congenital hand andfoot anomaly is presented. It is an autosomal dominant hereditary disorder characterized by brachymesophalangia, slight clinodactyly, deformed metacarpal heads, osteochondritis dissecans in metacarpophalangeal joints, absence or hypoplasia of the ulnar styloid processes, and brachyhypophalangia in the feet .
Lars Andren, M.D., Nils Carstam, M.D., and Bjame Linden, M.D., MalmO', Sweden
Osteochondritis dissecans (OD) is described in several joints, but as for the hand and the wrist, there are very few reports. The changes are localized exclusively in the carpal bones. As far as we can see, there is no report in the literature of any other localization of OD in the metacarpals or the phalanges . Brachymesophalangia, i.e., short digits because of hypoplasia of the middle phalanges is the most common type of phalangeal shortening and also one of the From the Department of Hand Surgery and Roentgendiagnostic Department, Malmo General Hospital, Malmo, Sweden. Received for publication March 29, 1977. Reprint requests: Nils Carstam, M.D ., Department of Hand Surgery , Malmo General Hospital, S 21401 Malmo, Sweden.
most common anomalies of the hand. l It is an integral component of numerous syndromes in combination with other anomalies. We have had the opportunity to study five generations of a family with a syndrome characterized by short middle phalanges in the index and little fingers, slightly curved index, ring, and little finge~s, deformed metacarpal heads, free bone ·fragments resembling osteochondritis in the metacarpophalangeal joints 'of the index and middle fingers, absence of or very broad and short ulnar styloid processes, and absence of or hypoplasia of the middle phalanges of the toes. The disorder is a variety of hand and foot anomalies not described previously.
II
III
IV
V
OMEN
o
WOMEN
Fig. 1. Pedigree showing a five-generation kindred with the syndrome. Filled symbols represent affected and clinically investigated members; half-filled symbols represent only affected members.
0363-5023/78/0203-0117$00.60/0 © 1978 American Society for Surgery of the Hand
THE JOURNAL OF HAND SURGERY
117
118 Andren, Carstam , and Linden
The Journal of HAND SURGERY
Fig. 2. The right hand of member IV-4, a 29-year-old man with brachydactyly and clinodactyly.
Family study
The pedigree is shown in Fig. I . The family consists of 27 members. The syndrome is so characteristic that the mothers could notice the deformities at the children's birth. From our experience we also could see at a glance whether the hands were normal or abnormal. The oldest members told us that their parents and grandparents had abnormal fingers, as shown in the pedigree. Members of generation I and II are dead. Members of generation V still are children. We have examined 17 members. Of these, IO had the syndrome. Another four members were said to have the syndrome; three of these were dead, and one refused to be examined. There were five male subjects and nine female subjects with anomalies. Case report. Member IV -4 of the pedigree is our first patient. In 1972, at the age of 25, he was seen at the Department of Hand Surgery, Malmo . He was healthy except for the hands which always had been " bony." For some time he had had difficulties in extending the index finger of his left hand and had suffered some pain. There was no history of trauma. Radiograms of the hands showed deformed heads of the metacarpals, free bone fragments in the metacarpophalangeal
Fig. 3. Radiograms of the right hand of member IV -4 who had brachymesophalangia of the index and little fingers and free bone bodies in the metacarpophalangeal joints of the index and middle fingers. joints of the index and middle fingers , short middle phalanges of the index and little fingers , curved index, ring, and little fingers, and absence of the ulnar styloid processes. The thumbs and the carpal bones were normal. Both hands showed the same pattern (Figs. 2 through 4). The patient had never had symptoms in his feet and believed them to be normal . Radiograms of the feet re vealed the absence of the middle phalanges in the toes. No loose bodies could be seen in joints of the feet (Fig. 5) . The loose body in the left index metacarpophalangeal joint was removed. It measured 7 by 8 mm, was attached to the synovial membrane, and was lens shaped. One side was covered by cartilage and the other consisted of bone. There was an obvious defect in the articular surface of the metacarpal head into which the loose body could be fitted. Microscopic examination revealed that the body was composed of hyaline cartilage with lamellar bone . After the operation the patient had no symptoms from his hands , yet 4 years later, when the family was examined, roentgenograms showed that a new bone fragment had formed in the operated joint.
Vol. 3, No.2 March, 1978
Osteochondritis dissecans and brachymesophalangia
119
Fig. 4. A 45° lateral view of both hands of member IV-4. The heads of the metacarpal bones are flattened and deformed with free bone bodies in joints.
The family study showed that the anomalies in the hands and feet varied in degree (Table I) (Figs. 6 through 8). The syndrome was inherited as an autosomal dominant disorder. No other bones were found to be affected in the patients under study, nor was there any abnormality of stature or other physical signs. The loose bodies resembling OD were present, especially in the metacarpophalangeal joint of the younger members, whereas in the elder members a clear defect in the metacarpal heads could be seen. The fifth generation consisted of eight members, all children, i.e., individuals with open epiphyseal lines. Only one member had the syndrome with short mid phalanges. His epiphyses looked normal and no free bodies in metacarpophalangeal joints could be seen. Anthropometry of the hand, according to Poznanski,2 revealed a typical pattern with short middle phalanges, as shown in Fig. 9. The shortness of the index and little fingers is especially evident in the profile pattern. The other phalanges and metacarpal bones were normal. The affected members claimed no particular symptoms in their hands and thought their feet were normal. Some had difficulties in playing the piano owing to the short fingers. Clinically, the ring and little fingers had a slight ra-
Fig. 5. Radiogram of the right foot of member IV-4. The middle phalanges of the four lateral toes are absent.
The Journal of
120 Andren, Carstam, and Linden
HAND SURGERY
Fig. 6. Radiogram of of the right hand of member IV-8. A 27-year-old woman with brachymesophalangia of the index and little fingers, deformed metacarpal heads of the index and little fingers, osteochondritis dissecans in metacarpophalangeal joints of the index and middle fingers, and absent ulnar styloid processes.
Fig. 7 A. Radiogram of the right hand of member III-7. A 63year-old man with brachymesophalangia of the index and little fingers, deformed metacarpal heads of the index and little fingers with free bodies in the metacarpophalangeal joints of the index and middle fingers .
Table I Abnormalities present in family members Number in the pedigree Sex Age (yr) Brachymesophalangia
Free bone fragments in the metacarpophalangeal
II III IV V
111=3
III =4
111=5
F
F
F
63
59
+ + + +
+ + + +
II III IV
Absence or hypoplasia of the ulnar styloid processes Brachyhypophalangia in the feet
III =2 M 57
+ + +
II III IV V
+ +
+
+ +
IV=8 V=7 F M 27 5
IV=4 M 29
JV=7
+ + + +
+ + + +
+ + + +
+ + + +
+ +
+ +
+ +
+
+ +
+
+
+
+
+ + + +
+ + +
JV=2
56
III =7 M 63
+ + + +
+ + + +
+ + + +
+
+ + +
+
+
+ +
+ + + +
+ + + +
F 29
+ +
F 27
+ + + +
+ + + + +
+ +
Vol. 3, No.2 March, 1978
Osteochondri,tis dissecans and brachymesophalangia
121
Fig. 8. Radiogram of right forefoot of member I1I-4. A 59year-old woman with brachyhypophalangia of the ring and little fingers.
s. D. 10
8
+
Fig. 7B. Sketch illustrating the same in the left hand of member III-7.
6 4
4 6
dial deviation, and the index finger deviated slightly ulnariy. The fingers were short and clumsy. The nails were broad and flat. The range of motion was impaired in the involved metacarpophalangeal joints. This was particularly evident in the little finger. The restriction of extension ranged from 10° to 40°, passively and actively. There was also a slight lack of full extension in the interphalangeal joints. Abduction and adduction of the index and little fingers were poor. The grip power of the hand was somewhat impaired, as compared with normal hands. There was no difference in the anomalies between the right and left hands. Discussion Osteochondritis dissecans is defined as a partial or complete separation of a cartilage-bone fragment from a joint surface, where the separation of the fragment from the surrounding tissue takes place gradually without trauma. 5 In our patients there was no history of trauma and the
8 10 1234512345234512345 METACARPAL
PROXIMAL
MIDDLE
DISTAL
Fig. 9. Pattern profile of the right hand of member IV-4. The profile shows the shortening of the middle phalanges of the index and little fingers.
loose fragments could not have represented any form of osteochondral fracture; they consisted of bone and cartilage and fulfilled the criteria of osteochondritis dissecans. Osteochondritis dissecans is localized in various joints and is described by various authors. The highest frequency is in the femoral condyles 3 but it also can be localized in other joints, even in the head of a metatarsal, as first described by Kohler. In the wrist and the hand, osteochondritis dissecans is very rare. Only a few cases in the scaphoid bone have been reported. 4 The literature on brachydactyly is vast and a number
The Joumal of HAND SURGERY
122 Andren, Carstam, and Linden
of syndromes have been presented. In none was there recorded the absence of the ulnar styloid process as found in the family we studied. It seems to us that this syndrome may represent a form of epiphyseal disturbance producing brachymesophalangia, slight clinodactyly, deformed metacarpal heads, osteochondritis dissecans in metacarpophalangeal joints, absence or hypoplasia of the ulnar styloid processes, and brachyhypophalangia in the feet. REFERENCES
2. Poznanski AK: The hand in radiologic diagnosis. Philadelphia, London, Toronto, 1974, W . B. Saunders Co . 3. Linden CB: The incidence of osteochondritis dissecans in the condyles of the femur. Acta Orthop Scand 47:664, 1976 4. Meves H, Schneider-Sickert F: Gibt es eine Osteochondritis Dissecans am Kahnbein der Hand. Z Orthop 113:424, 1975 5. Smillie IS: Osteochondritis dissecans. Loose bodies in joints. Etiology, pathology, treatment. Edinburgh, London, 1960, E. & S. Livingstone, Ltd.
I. Kelikian H: Congenital deformities of the hand and forearm . Philadelphia, London, Toronto, 1974, W . B. Saunders Co.
1976 REPRINTED COPIES AVAILABLE Reprinted copies of all 1976 issues of THE JOURNAL OF HAND SURGERY (July, September, and November) are available from the Publisher. The price per copy is $5.00. Payment must accompany each order. Make checks payable to THE JOURNAL OF HAND SURGERY and send to The C. V. Mosby Company, Circulation Fulfillment Department, 11830 Westline Industrial Drive, St. Louis, Missouri 63141.
Lars Andren, M.D., Nils Carstam, M.D., and Bjame Linden, M.D., MalmO', Sweden
Osteochondritis dissecans (OD) is described in several joints, but as for the hand and the wrist, there are very few reports. The changes are localized exclusively in the carpal bones. As far as we can see, there is no report in the literature of any other localization of OD in the metacarpals or the phalanges . Brachymesophalangia, i.e., short digits because of hypoplasia of the middle phalanges is the most common type of phalangeal shortening and also one of the From the Department of Hand Surgery and Roentgendiagnostic Department, Malmo General Hospital, Malmo, Sweden. Received for publication March 29, 1977. Reprint requests: Nils Carstam, M.D ., Department of Hand Surgery , Malmo General Hospital, S 21401 Malmo, Sweden.
most common anomalies of the hand. l It is an integral component of numerous syndromes in combination with other anomalies. We have had the opportunity to study five generations of a family with a syndrome characterized by short middle phalanges in the index and little fingers, slightly curved index, ring, and little finge~s, deformed metacarpal heads, free bone ·fragments resembling osteochondritis in the metacarpophalangeal joints 'of the index and middle fingers, absence of or very broad and short ulnar styloid processes, and absence of or hypoplasia of the middle phalanges of the toes. The disorder is a variety of hand and foot anomalies not described previously.
II
III
IV
V
OMEN
o
WOMEN
Fig. 1. Pedigree showing a five-generation kindred with the syndrome. Filled symbols represent affected and clinically investigated members; half-filled symbols represent only affected members.
0363-5023/78/0203-0117$00.60/0 © 1978 American Society for Surgery of the Hand
THE JOURNAL OF HAND SURGERY
117
118 Andren, Carstam , and Linden
The Journal of HAND SURGERY
Fig. 2. The right hand of member IV-4, a 29-year-old man with brachydactyly and clinodactyly.
Family study
The pedigree is shown in Fig. I . The family consists of 27 members. The syndrome is so characteristic that the mothers could notice the deformities at the children's birth. From our experience we also could see at a glance whether the hands were normal or abnormal. The oldest members told us that their parents and grandparents had abnormal fingers, as shown in the pedigree. Members of generation I and II are dead. Members of generation V still are children. We have examined 17 members. Of these, IO had the syndrome. Another four members were said to have the syndrome; three of these were dead, and one refused to be examined. There were five male subjects and nine female subjects with anomalies. Case report. Member IV -4 of the pedigree is our first patient. In 1972, at the age of 25, he was seen at the Department of Hand Surgery, Malmo . He was healthy except for the hands which always had been " bony." For some time he had had difficulties in extending the index finger of his left hand and had suffered some pain. There was no history of trauma. Radiograms of the hands showed deformed heads of the metacarpals, free bone fragments in the metacarpophalangeal
Fig. 3. Radiograms of the right hand of member IV -4 who had brachymesophalangia of the index and little fingers and free bone bodies in the metacarpophalangeal joints of the index and middle fingers. joints of the index and middle fingers , short middle phalanges of the index and little fingers , curved index, ring, and little fingers, and absence of the ulnar styloid processes. The thumbs and the carpal bones were normal. Both hands showed the same pattern (Figs. 2 through 4). The patient had never had symptoms in his feet and believed them to be normal . Radiograms of the feet re vealed the absence of the middle phalanges in the toes. No loose bodies could be seen in joints of the feet (Fig. 5) . The loose body in the left index metacarpophalangeal joint was removed. It measured 7 by 8 mm, was attached to the synovial membrane, and was lens shaped. One side was covered by cartilage and the other consisted of bone. There was an obvious defect in the articular surface of the metacarpal head into which the loose body could be fitted. Microscopic examination revealed that the body was composed of hyaline cartilage with lamellar bone . After the operation the patient had no symptoms from his hands , yet 4 years later, when the family was examined, roentgenograms showed that a new bone fragment had formed in the operated joint.
Vol. 3, No.2 March, 1978
Osteochondritis dissecans and brachymesophalangia
119
Fig. 4. A 45° lateral view of both hands of member IV-4. The heads of the metacarpal bones are flattened and deformed with free bone bodies in joints.
The family study showed that the anomalies in the hands and feet varied in degree (Table I) (Figs. 6 through 8). The syndrome was inherited as an autosomal dominant disorder. No other bones were found to be affected in the patients under study, nor was there any abnormality of stature or other physical signs. The loose bodies resembling OD were present, especially in the metacarpophalangeal joint of the younger members, whereas in the elder members a clear defect in the metacarpal heads could be seen. The fifth generation consisted of eight members, all children, i.e., individuals with open epiphyseal lines. Only one member had the syndrome with short mid phalanges. His epiphyses looked normal and no free bodies in metacarpophalangeal joints could be seen. Anthropometry of the hand, according to Poznanski,2 revealed a typical pattern with short middle phalanges, as shown in Fig. 9. The shortness of the index and little fingers is especially evident in the profile pattern. The other phalanges and metacarpal bones were normal. The affected members claimed no particular symptoms in their hands and thought their feet were normal. Some had difficulties in playing the piano owing to the short fingers. Clinically, the ring and little fingers had a slight ra-
Fig. 5. Radiogram of the right foot of member IV-4. The middle phalanges of the four lateral toes are absent.
The Journal of
120 Andren, Carstam, and Linden
HAND SURGERY
Fig. 6. Radiogram of of the right hand of member IV-8. A 27-year-old woman with brachymesophalangia of the index and little fingers, deformed metacarpal heads of the index and little fingers, osteochondritis dissecans in metacarpophalangeal joints of the index and middle fingers, and absent ulnar styloid processes.
Fig. 7 A. Radiogram of the right hand of member III-7. A 63year-old man with brachymesophalangia of the index and little fingers, deformed metacarpal heads of the index and little fingers with free bodies in the metacarpophalangeal joints of the index and middle fingers .
Table I Abnormalities present in family members Number in the pedigree Sex Age (yr) Brachymesophalangia
Free bone fragments in the metacarpophalangeal
II III IV V
111=3
III =4
111=5
F
F
F
63
59
+ + + +
+ + + +
II III IV
Absence or hypoplasia of the ulnar styloid processes Brachyhypophalangia in the feet
III =2 M 57
+ + +
II III IV V
+ +
+
+ +
IV=8 V=7 F M 27 5
IV=4 M 29
JV=7
+ + + +
+ + + +
+ + + +
+ + + +
+ +
+ +
+ +
+
+ +
+
+
+
+
+ + + +
+ + +
JV=2
56
III =7 M 63
+ + + +
+ + + +
+ + + +
+
+ + +
+
+
+ +
+ + + +
+ + + +
F 29
+ +
F 27
+ + + +
+ + + + +
+ +
Vol. 3, No.2 March, 1978
Osteochondri,tis dissecans and brachymesophalangia
121
Fig. 8. Radiogram of right forefoot of member I1I-4. A 59year-old woman with brachyhypophalangia of the ring and little fingers.
s. D. 10
8
+
Fig. 7B. Sketch illustrating the same in the left hand of member III-7.
6 4
4 6
dial deviation, and the index finger deviated slightly ulnariy. The fingers were short and clumsy. The nails were broad and flat. The range of motion was impaired in the involved metacarpophalangeal joints. This was particularly evident in the little finger. The restriction of extension ranged from 10° to 40°, passively and actively. There was also a slight lack of full extension in the interphalangeal joints. Abduction and adduction of the index and little fingers were poor. The grip power of the hand was somewhat impaired, as compared with normal hands. There was no difference in the anomalies between the right and left hands. Discussion Osteochondritis dissecans is defined as a partial or complete separation of a cartilage-bone fragment from a joint surface, where the separation of the fragment from the surrounding tissue takes place gradually without trauma. 5 In our patients there was no history of trauma and the
8 10 1234512345234512345 METACARPAL
PROXIMAL
MIDDLE
DISTAL
Fig. 9. Pattern profile of the right hand of member IV-4. The profile shows the shortening of the middle phalanges of the index and little fingers.
loose fragments could not have represented any form of osteochondral fracture; they consisted of bone and cartilage and fulfilled the criteria of osteochondritis dissecans. Osteochondritis dissecans is localized in various joints and is described by various authors. The highest frequency is in the femoral condyles 3 but it also can be localized in other joints, even in the head of a metatarsal, as first described by Kohler. In the wrist and the hand, osteochondritis dissecans is very rare. Only a few cases in the scaphoid bone have been reported. 4 The literature on brachydactyly is vast and a number
The Joumal of HAND SURGERY
122 Andren, Carstam, and Linden
of syndromes have been presented. In none was there recorded the absence of the ulnar styloid process as found in the family we studied. It seems to us that this syndrome may represent a form of epiphyseal disturbance producing brachymesophalangia, slight clinodactyly, deformed metacarpal heads, osteochondritis dissecans in metacarpophalangeal joints, absence or hypoplasia of the ulnar styloid processes, and brachyhypophalangia in the feet. REFERENCES
2. Poznanski AK: The hand in radiologic diagnosis. Philadelphia, London, Toronto, 1974, W . B. Saunders Co . 3. Linden CB: The incidence of osteochondritis dissecans in the condyles of the femur. Acta Orthop Scand 47:664, 1976 4. Meves H, Schneider-Sickert F: Gibt es eine Osteochondritis Dissecans am Kahnbein der Hand. Z Orthop 113:424, 1975 5. Smillie IS: Osteochondritis dissecans. Loose bodies in joints. Etiology, pathology, treatment. Edinburgh, London, 1960, E. & S. Livingstone, Ltd.
I. Kelikian H: Congenital deformities of the hand and forearm . Philadelphia, London, Toronto, 1974, W . B. Saunders Co.
1976 REPRINTED COPIES AVAILABLE Reprinted copies of all 1976 issues of THE JOURNAL OF HAND SURGERY (July, September, and November) are available from the Publisher. The price per copy is $5.00. Payment must accompany each order. Make checks payable to THE JOURNAL OF HAND SURGERY and send to The C. V. Mosby Company, Circulation Fulfillment Department, 11830 Westline Industrial Drive, St. Louis, Missouri 63141.
