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The multiple synostoses syndrome: case report and literature review
Foot and Ankle Surgery 1999
5:257-261
The multiple synostoses syndrome: case report
and literature review A. C A R R A N Z A - B E N C A N O , J.M. G A L L O - A Y A L A , V. D U Q U E - G I M E N O , J.A. G O M E Z - A R R O Y O , M. Z U R I T A - G U T I E R R E Z A N D G. A N T I N O L O Hospital Universitario Virgen del Roclo, Sevilla, Spain.
Summary We report the case of a 26-year-old m a n with atypical club feet, massive tarsal synostosis, bilateral elbow dysplasia with radio-ulnar synostosis, carpal fusion and proximal symphalangism. The clinical findings and the surgery for club foot are reviewed.
Keywords: multiple
synostoses
Introduction In Switzerland, in 1944, Nievelgert [1] published the case of a paternity suit involving a father and his three children born to different mothers. The children presented the same deformities as the father: massive tarsal synostosis, flexed elbow dysplasia with radioulnar synostosis, radial-head subluxation and tibial and fibular dysplasia.
Figure 2
Tarsal and tarsometatarsal massive fusion with elevation of the first metatarsal. Lateral radiograph of the right foot.
Figure 1
Rigid deformity with supination of the forefoot and flexion of the first metatarsophalangeal joint. Correspondence: A. Carranza-Bencano,c/Sta. Clara 16 1° D, 41002 Sevilla, Spain (e-mail: [email protected]).
© 1999 Blackwell ScienceLtd
In 1964, Pearlman et al. [2] described a similar deformity in a m o t h e r and daughter w h o presented with carpal synostosis, synphalangism, brachydactyly and clinocamptodactyly (all of which were not present in the original cases) and did not have tibial and fibular dysplasia. The s y n d r o m e was called Nievelgert Syndrome. Some years later, in 1970, Dubois [3] published the case of a 7-year-old girl with abnormalities coinciding with those of the previously described cases. There
257
258
A. C A R R A N Z A - B E N C A N O E T A L .
Figure 4 Synphalangism of the second and fifth toes due to fusion of the medial and proximal phalanges with disappearance of the proximal interphalangealjoint.
Figure 3 Antero-posterior radiograph of the ankle demonstratingthe ball and socketjoint.
was n o known family history of the condition. The term Nievelgert-Pearlman Syndrome was used. In 1972, Maroteaux et al. [4] described seven members of a single family with proximal synphalangism, carpal and tarsal fusion, radial-head subluxation, short first metacarpals and hypoplasia or aplasia of various distal phalanges and their corresponding nails. The term Multiple Synostoses Syndrome was used.
Case report A 26-year old man was referred to the outpatient clinic of our hospital with atypical club foot deformities. He walked on the outer borders of his feet (shuffling gait) and had forefoot supination and flexion of the first metatarsophalangeal joint, with
the first metatarsal not bearing weight (Figure 1). Radiographs showed tarsal and tarsometatarsal massive fusion (Figure 2) with a 'ball and socket' deformity of the ankle joint (Figure 3) and proximal synphalangism of the lateral four toes, with proximal interphalangeal joint fusion (Figure 4). Study of the patient revealed other abnormalities. Bilateral elbow dysplasia with complete lack of movement in the right elbow, in 120 ° flexion, with humero-radial synostosis (Figure 5), and limited range of movement of the left elbow, between 80 ° and 160 °, with radial-head subluxation. There was fusion between trapezoid and capitate and also between hamate and triquetrum (Figure 6), but wrist movement was not limited. The fingers presented proximal synphalangism, with proximal interphalangeal joint fusion, from the second to the fifth fingers (Figure 7). The skin overlying the affected joints was smooth and lacked the normal fold produced by flexion. The association with transmitted deafness caused by bony fusion of the ossicles of the middle ear in these cases led us to perform audiometry. The results were within the normal ranges. Cytogenetic analysis in lymphocytes in peripheral blood revealed a karyotype 46, XY. We proceeded to surgical treatment of both feet with a 6-month interval between each intervention. The treatment consisted of an osteotomy at the base of both first metatarsal bones in order to lower them and correcting forefoot supination. The osteotomy © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
THE MULTIPLE SYNOSTOSES SYNDROME
259
Figure 5
A lateral radiograph of the right elbow with complete fusion between humerus and radius.
was maintained in the desired position with a boot cast which was left on for 6 weeks. Both feet were perfectly consolidated (Figure 8) with a remarkable clinical and functional improvement by the end of this period and at 2 years' follow-up (Figure 9), allowing the patient to walk and run freely without limitations.
Discussion
Cases of tarsal synostosis are relatively frequent in clinical practice as well as in the medical literature, however, documented cases of multiple synostoses are much less frequent. Since Nievelgert [1] published on this abnormality for the first time in 1944, few cases have been described in the literature. Solonen and Sulamaa [5] published on a sporadic case of © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
Figure 6
An antero-posterior radiograph of the wrist showing fusion of carpal bones.
Nievelgert Syndrome in 1958. In 1964, Pearlman et al. [2] described a similar deformity in a mother and daughter who presented with carpal synostosis, synphalangism, brachydactyly and clinocamptodactyly, all of which had not been present in previously published cases. However, they also used [he term Nievelgert Syndrome. In 1970, Dubois [3] published the case of a 7-year-old girl, without any known family history of the condition, who presented all of the abnormalities typical of this syndrome: massive tarsal synostosis with atypical club feet and ankles with 'ball and socket' deformity, dysplasia in flexion of both elbows with varying degrees of fusion between ulna, radius and humerus and radial-head subluxation, carpal fusion with normal mobility and proximal synphalangism in fingers and toes. This group of abnormalities was, for the first time, called
260
A. C A R R A N Z A - B E N C A N O E T A L .
Figure 9
Lateral postoperative views of corrected forefootsupination and flexionof metatarsophalangealjoint.
Figure 7
Synphalangism of fingers with fusion of the proximal interphalangealjoints.
Figure 8
Postoperative radiograph.
Nievelgert-Pearlman Syndrome due to the first two descriptions published in the literature. In 1972 however, Maroteaux [4] advocated the use of the term Multiple Synostoses Syndrome. Subsequently, in 1975 in Japan, Murakami [6] used the term Nievelgert-Pearlman Syndrome to describe three cases in a single family suffering from a progressive loss of hearing. The conductive deafness was due to bony fusion of the ossicles of the middle ear. In 1976 Kassner et al. [7], studied three generations of a family with similar skeletal abnormalities. Two of the family members had been previously reported by Pearlman et al. [2] as examples of Nievelgert Syndrome, even though the syndrome does not include synphalangism. Hence, they suggested avoiding the term 'Nievelgert-Pearlman'. In 1978 Nixon and Orth [8] used the term Nievelgert-Pearlman to describe the cases of a father and daughter and the genetic transmission by an autosomal dominant trait of variable penetrance. In 1978 Hess et al. [9] re-studied the family reported by Nievelgert and in 1985 Hurvitz et al. [10] described a case and suggested the term 'Fascio-AudioSynphalangism Syndrome'. We present a case of massive tarsal synostosis with 'ball and socket' ankles joint, dysplasia in flexion of both elbows with varying degrees of fusion between humerus, ulna and radius, carpal fusion with normal mobility and proximal synphalangism in fingers and toes. However, in our case there is no known family history of the condition, the audiometry was normal © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
THE MULTIPLE SYNOSTOSES
a n d the p a t i e n t d i d n o t p r e s e n t t i b i o - f i b u l a r d e f o r m i t y as d e s c r i b e d b y N i e v e l g e r t [1]. Therefore, w e b e l i e v e t h a t it is p r u d e n t to restrict the u s e of ' N i e v e l g e r t S y n d r o m e ' to t h o s e cases w h i c h s h o w tibial d e f o r m i t y a n d u s e the t e r m M u l t i p l e S y n o s t o s e s to d e s c r i b e other mesometric dwarfs with irregular b o n e fusion. T h e p a t i e n t s are m o r e i n c o n v e n i e n c e d b y their feet t h a n b y their h a n d s and a simple surgical intervention o n b o t h feet a l l o w s c o r r e c t i o n w i t h g o o d f u n c t i o n a l results.
References 1 Nievelgert K. Positiver Vaterschaftsnachweis auf Grund erblicher missbildungen der extemit~ten. Arch Julius KlausStiftung Ffzr Vererbungsforshung, SozialantropologieRassenhygiene 1944; 19: 157-159.
© 1999 Blackwell Science Ltd, Foot and Ankle Surgery, 5, 257-261
SYNDROME
261
2 Pearlman HS, Edkin RE, Warren RF. Familial tarsal and carpal synostoses with radiol head subluxation (Nielvergert's Syndrome). J Bone Joint Surg 1964; 46A: 585-592. 3 Dubois HJ. Nievelgert-Pearlman Syndrome. J Bone Joint Surg 1970; 52B" 325-329. 4 Maroteux P, Bouvet JP, Briard ML. La matadie de synostoses multiples. Nouv Presse Med 1972; 1: 3041-3047. 5 Solonen KA, Sulamaa M. Nievelgert syndrome and its treatment. A case report. Ann Chir Gynaec Fenn 1958; 47: 142-147. 6 Murakami Y.Nievelgert-PearlmanSyndrome with impairment of hearing: report of three cases in a family. J Bone Joint Surg 1975; 57B: 367-372. 7 Kassner EG, Katz I, Qazi QH. Symphalangism with metacarpophalangeal fusion and elbow abnormalities. Pediatr Radiol 1976; 4: 103-107. 8 Nixon JR, Orth M. The Multiple Synostoses Syndrome. Clin Orthop 1978; 135: 48-51. 9 Hess OM, Goebel NH, Stretli R. Familiarer mesomeler kleiwucks (Nievergelt Syndrome). Schweiz Med Wschr 1978; 108: 1202-1206. 10 Hurvist SA, Goodman RM, Hertz M et al. The facioaudio-symphalangism syndrome: report of a case and review of the literature. Clin Genet 1985; 28: 61-68.
5:257-261
The multiple synostoses syndrome: case report
and literature review A. C A R R A N Z A - B E N C A N O , J.M. G A L L O - A Y A L A , V. D U Q U E - G I M E N O , J.A. G O M E Z - A R R O Y O , M. Z U R I T A - G U T I E R R E Z A N D G. A N T I N O L O Hospital Universitario Virgen del Roclo, Sevilla, Spain.
Summary We report the case of a 26-year-old m a n with atypical club feet, massive tarsal synostosis, bilateral elbow dysplasia with radio-ulnar synostosis, carpal fusion and proximal symphalangism. The clinical findings and the surgery for club foot are reviewed.
Keywords: multiple
synostoses
Introduction In Switzerland, in 1944, Nievelgert [1] published the case of a paternity suit involving a father and his three children born to different mothers. The children presented the same deformities as the father: massive tarsal synostosis, flexed elbow dysplasia with radioulnar synostosis, radial-head subluxation and tibial and fibular dysplasia.
Figure 2
Tarsal and tarsometatarsal massive fusion with elevation of the first metatarsal. Lateral radiograph of the right foot.
Figure 1
Rigid deformity with supination of the forefoot and flexion of the first metatarsophalangeal joint. Correspondence: A. Carranza-Bencano,c/Sta. Clara 16 1° D, 41002 Sevilla, Spain (e-mail: [email protected]).
© 1999 Blackwell ScienceLtd
In 1964, Pearlman et al. [2] described a similar deformity in a m o t h e r and daughter w h o presented with carpal synostosis, synphalangism, brachydactyly and clinocamptodactyly (all of which were not present in the original cases) and did not have tibial and fibular dysplasia. The s y n d r o m e was called Nievelgert Syndrome. Some years later, in 1970, Dubois [3] published the case of a 7-year-old girl with abnormalities coinciding with those of the previously described cases. There
257
258
A. C A R R A N Z A - B E N C A N O E T A L .
Figure 4 Synphalangism of the second and fifth toes due to fusion of the medial and proximal phalanges with disappearance of the proximal interphalangealjoint.
Figure 3 Antero-posterior radiograph of the ankle demonstratingthe ball and socketjoint.
was n o known family history of the condition. The term Nievelgert-Pearlman Syndrome was used. In 1972, Maroteaux et al. [4] described seven members of a single family with proximal synphalangism, carpal and tarsal fusion, radial-head subluxation, short first metacarpals and hypoplasia or aplasia of various distal phalanges and their corresponding nails. The term Multiple Synostoses Syndrome was used.
Case report A 26-year old man was referred to the outpatient clinic of our hospital with atypical club foot deformities. He walked on the outer borders of his feet (shuffling gait) and had forefoot supination and flexion of the first metatarsophalangeal joint, with
the first metatarsal not bearing weight (Figure 1). Radiographs showed tarsal and tarsometatarsal massive fusion (Figure 2) with a 'ball and socket' deformity of the ankle joint (Figure 3) and proximal synphalangism of the lateral four toes, with proximal interphalangeal joint fusion (Figure 4). Study of the patient revealed other abnormalities. Bilateral elbow dysplasia with complete lack of movement in the right elbow, in 120 ° flexion, with humero-radial synostosis (Figure 5), and limited range of movement of the left elbow, between 80 ° and 160 °, with radial-head subluxation. There was fusion between trapezoid and capitate and also between hamate and triquetrum (Figure 6), but wrist movement was not limited. The fingers presented proximal synphalangism, with proximal interphalangeal joint fusion, from the second to the fifth fingers (Figure 7). The skin overlying the affected joints was smooth and lacked the normal fold produced by flexion. The association with transmitted deafness caused by bony fusion of the ossicles of the middle ear in these cases led us to perform audiometry. The results were within the normal ranges. Cytogenetic analysis in lymphocytes in peripheral blood revealed a karyotype 46, XY. We proceeded to surgical treatment of both feet with a 6-month interval between each intervention. The treatment consisted of an osteotomy at the base of both first metatarsal bones in order to lower them and correcting forefoot supination. The osteotomy © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
THE MULTIPLE SYNOSTOSES SYNDROME
259
Figure 5
A lateral radiograph of the right elbow with complete fusion between humerus and radius.
was maintained in the desired position with a boot cast which was left on for 6 weeks. Both feet were perfectly consolidated (Figure 8) with a remarkable clinical and functional improvement by the end of this period and at 2 years' follow-up (Figure 9), allowing the patient to walk and run freely without limitations.
Discussion
Cases of tarsal synostosis are relatively frequent in clinical practice as well as in the medical literature, however, documented cases of multiple synostoses are much less frequent. Since Nievelgert [1] published on this abnormality for the first time in 1944, few cases have been described in the literature. Solonen and Sulamaa [5] published on a sporadic case of © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
Figure 6
An antero-posterior radiograph of the wrist showing fusion of carpal bones.
Nievelgert Syndrome in 1958. In 1964, Pearlman et al. [2] described a similar deformity in a mother and daughter who presented with carpal synostosis, synphalangism, brachydactyly and clinocamptodactyly, all of which had not been present in previously published cases. However, they also used [he term Nievelgert Syndrome. In 1970, Dubois [3] published the case of a 7-year-old girl, without any known family history of the condition, who presented all of the abnormalities typical of this syndrome: massive tarsal synostosis with atypical club feet and ankles with 'ball and socket' deformity, dysplasia in flexion of both elbows with varying degrees of fusion between ulna, radius and humerus and radial-head subluxation, carpal fusion with normal mobility and proximal synphalangism in fingers and toes. This group of abnormalities was, for the first time, called
260
A. C A R R A N Z A - B E N C A N O E T A L .
Figure 9
Lateral postoperative views of corrected forefootsupination and flexionof metatarsophalangealjoint.
Figure 7
Synphalangism of fingers with fusion of the proximal interphalangealjoints.
Figure 8
Postoperative radiograph.
Nievelgert-Pearlman Syndrome due to the first two descriptions published in the literature. In 1972 however, Maroteaux [4] advocated the use of the term Multiple Synostoses Syndrome. Subsequently, in 1975 in Japan, Murakami [6] used the term Nievelgert-Pearlman Syndrome to describe three cases in a single family suffering from a progressive loss of hearing. The conductive deafness was due to bony fusion of the ossicles of the middle ear. In 1976 Kassner et al. [7], studied three generations of a family with similar skeletal abnormalities. Two of the family members had been previously reported by Pearlman et al. [2] as examples of Nievelgert Syndrome, even though the syndrome does not include synphalangism. Hence, they suggested avoiding the term 'Nievelgert-Pearlman'. In 1978 Nixon and Orth [8] used the term Nievelgert-Pearlman to describe the cases of a father and daughter and the genetic transmission by an autosomal dominant trait of variable penetrance. In 1978 Hess et al. [9] re-studied the family reported by Nievelgert and in 1985 Hurvitz et al. [10] described a case and suggested the term 'Fascio-AudioSynphalangism Syndrome'. We present a case of massive tarsal synostosis with 'ball and socket' ankles joint, dysplasia in flexion of both elbows with varying degrees of fusion between humerus, ulna and radius, carpal fusion with normal mobility and proximal synphalangism in fingers and toes. However, in our case there is no known family history of the condition, the audiometry was normal © 1999 BlackwellScienceLtd, Foot and Ankle Surgery, 5, 257-261
THE MULTIPLE SYNOSTOSES
a n d the p a t i e n t d i d n o t p r e s e n t t i b i o - f i b u l a r d e f o r m i t y as d e s c r i b e d b y N i e v e l g e r t [1]. Therefore, w e b e l i e v e t h a t it is p r u d e n t to restrict the u s e of ' N i e v e l g e r t S y n d r o m e ' to t h o s e cases w h i c h s h o w tibial d e f o r m i t y a n d u s e the t e r m M u l t i p l e S y n o s t o s e s to d e s c r i b e other mesometric dwarfs with irregular b o n e fusion. T h e p a t i e n t s are m o r e i n c o n v e n i e n c e d b y their feet t h a n b y their h a n d s and a simple surgical intervention o n b o t h feet a l l o w s c o r r e c t i o n w i t h g o o d f u n c t i o n a l results.
References 1 Nievelgert K. Positiver Vaterschaftsnachweis auf Grund erblicher missbildungen der extemit~ten. Arch Julius KlausStiftung Ffzr Vererbungsforshung, SozialantropologieRassenhygiene 1944; 19: 157-159.
© 1999 Blackwell Science Ltd, Foot and Ankle Surgery, 5, 257-261
SYNDROME
261
2 Pearlman HS, Edkin RE, Warren RF. Familial tarsal and carpal synostoses with radiol head subluxation (Nielvergert's Syndrome). J Bone Joint Surg 1964; 46A: 585-592. 3 Dubois HJ. Nievelgert-Pearlman Syndrome. J Bone Joint Surg 1970; 52B" 325-329. 4 Maroteux P, Bouvet JP, Briard ML. La matadie de synostoses multiples. Nouv Presse Med 1972; 1: 3041-3047. 5 Solonen KA, Sulamaa M. Nievelgert syndrome and its treatment. A case report. Ann Chir Gynaec Fenn 1958; 47: 142-147. 6 Murakami Y.Nievelgert-PearlmanSyndrome with impairment of hearing: report of three cases in a family. J Bone Joint Surg 1975; 57B: 367-372. 7 Kassner EG, Katz I, Qazi QH. Symphalangism with metacarpophalangeal fusion and elbow abnormalities. Pediatr Radiol 1976; 4: 103-107. 8 Nixon JR, Orth M. The Multiple Synostoses Syndrome. Clin Orthop 1978; 135: 48-51. 9 Hess OM, Goebel NH, Stretli R. Familiarer mesomeler kleiwucks (Nievergelt Syndrome). Schweiz Med Wschr 1978; 108: 1202-1206. 10 Hurvist SA, Goodman RM, Hertz M et al. The facioaudio-symphalangism syndrome: report of a case and review of the literature. Clin Genet 1985; 28: 61-68.