Abnormal bone masses in Klippel-Feil syndrome P. S.
Douglas,
K. F. Moos: W. S. Hislop
01~1 und Maxillo~&kd Surgery Depurtnzent, Cannieshurn Hospital, G’lusgo~:
SC’MMAR Y. Five female patients with Klippel-Feil syndrome (KFS) are presented with abnormal bony masses in the mandibular ramus region. The features of KFS arc described with assessment and treatment of the five patients. Although congenital duplication of mandibular rami in KFS has been previously documented, we believe this is the first series of patients with this deformity.
suggested there is usually no familial link to KFS. Most cases (>65%) appear to be fcmalc and the frequency of the disorder is in the region of 1 per 30 000-40 000 of the population. It is considered that faulty segmentation of mcsodermal somites in early embryonic development may cause KFS but there is no gross chromosomal anomaly (GOJhn ef al.. 1976) (Fig. 2). Several other fcaturcs associated with KFS have been described and variable expressions of these are et ul., 1967; found in individual cases. (Gundcrson Cooper: 1976; Helmi & Pruzansky, 1980; Nagib et ul.. 1985; Stewart & O’Reilly. 1989) (Table 2) (Figs 2, 3). In this series five Caucasian female patients are reported. They presented to Canniesburn Hospital at ages 6 26 years with variable expression of KFS. They all had bony masses of differing morphology extending from the zygomatic arch region towards the ascending ramus of the mandible and the maxil-
INTRODUCTIOk Klippcl-Fcil syndrome (KFS) has been well documented in the literature since its initial report in 19 12 by Klippel and Feil. Its original description of low occipital hairline. short neck with cervical vertebral fusion and painless limitation of head movement has been modified over the years. In particular the cases have been grouped according to the degree and region of spinal deformity (Fcil, 1919) (Table 1) (Fig. 1). Although autosomal recessive inheritance has been lahle
I - The grouping
Type I Type II Type III
of spinal dcfccts
in KFS
Extensive cervical and upper thoracic vcrwbral fusion. I-2 cervical intcrspacc fusions often associated with hcmivcrtebrae and occipito-atlanteal fusion. Cervical amd lower thoracic or lumber vcrtibral fusion.
Fig. ,l- (Case 5). 3-dimensional CT scan showing ccr\ kal vcrtcbral fusion and cervical ribs.
extensive
Fig. 2 - (Cast 2). Typical appearance of KIS Note neck webbing and in this case right sided macrostomia and low set car. 382
Abnormal
svndrome
383
B
A Fig. 3A, 3H - (Case 4). Facial views. Note gross mandibular
rctrusion
Table 2 - Associated anomalies in KFS Ylanifcstation
Facies
TGck webbing, facial asymmetry. dystopia. low posterior hairline. cleft palate. bilid uvula. jaw duplication, decreased -gag reflex, macrostomia. Strabismus. nysta_emus. chorioreGnal atrophy. Duane’s retraction syndrome Conductive and sensorineural deafness. Wildervanck’s syndrome (deafness, abducent palsy and globe retraction). Vertebral fusion and deformities. scoliosis. cervical ribs. Sprcngel shoulder. spina bifida occulta. Spasticity. syringomyclia. syringobulbia. hemi or quadriplegia. bimanual synkinesis (mirror movement) Congenital heart disease (usually ventricular septal defect).
Fycs tars
Musculoskclctal
Nervous
Cardiovascular Crogenital Others
System
and dystopia.
arches superiorly inferiorly. Thorc (Fig. 5).
System
Central
bone masses in kliouel-feil
and lying free in the buccal soft tissue was flattening of both condylar heads
Cow 2 f Fig. 2) This patient aged 8 years presented with trismus. mandibular rctrusion and defective ‘nasal’ speech. Related problems were bilateral conductive deafness, vclopharyngcal incompetence with decreased gag reflex and a similar commissurc dcfcct to Case I. Radiographs revealed right coronoid aplasia with a bony mass on the right side extending from the rygomatic arch into the buccal soft tissues. The right condylc was poorly formed with a flattcncd head. the left side being relatively normal (Fig. 6).
Renal agenesis, renal. pelvic and urcteral duplication. absent vagina.
Case 3
Supernumerary
This patient aged I I years presented with trismus and mandibular rctrusion. Further findings were ‘commissurc band’ as in cases I and 2. poor soft palate clcvation with a bifid uvula and vclopharyngcal incompetence. She also demonstrated prcauricular tags, conductive deafness and Duane’s syndrome. Radiographs revealed an abnormal bony mass on the right side attached by a fibrous joint to an under-developed coronoid process and an accessory condyle like structure on the left (Fig. 7).
lobe
of lung.
low set
nipples.
lary tuberosity area. In some cases the inferior end lay free in the buccal soft tissues in others it was
actually attached to a rudimentary coronoid by a fibrous joint (Figs 4A. 4B, 4C).
process
Case reports Cusr I
C:a.w 4 (Fig. 3 j
This patient aged 26 years presented with pain in the upper buccal sulcus, mandibular retrusion and trismus. Additional problems were Wildervanck’s syndrome, superventriculal tachycardia and increased gag rcflcx with vclopharyngeal incompctcncc. There was mild macrostomia with a fibrous band running subcutaneously from the left commissure towards the tcmporomandibular joint region. Radiographs revealed hypoplastic coronoid proccsscs bilaterally with triangular shaped bony masses attached to the zygomatic
This patient aged 6 years presented with trismus and mandibular retrusion. She also exhibited Duane’s syndromc. an inert soft palate. velopharyngeal incompetence, conductive deafness. bimanual synkinesis, eczema. pulmonary artery hypertension and ureterococlc. Radiographs revealed lower cervical hcmivcrtebrae and cervical spina bifida occulta. Both condyles were flattened and bilateral bony masses cxtendcd from the c.ygomatic arches to the hypoplastic coronoid proccsscs (Fig. 8).
384
British Journal
of Oral and Maxillofacial
Fig. 4A, 4B - (Case 5). 3-dimensional Fig. 4C - (Case 5). CT scan showing
Fig. 5 - (Case I). Orthopantomogram bony masses (arrowed) and flattening
Fig. 6 - (Case 2). Orthopantomogram. apparent (arrowcd).
Surgery
CT scan showing bony masses (arrowed). position of bony masses (arrowed).
of patient showing of condylar heads.
bilateral
Right sided mass is
Fig. 7 - (Cast 3). Orthopantomogram mass on right and accessory condyle (arrowed).
showing triangular shaped like structure on left
Fig. 8 - (Case 4). Orthopantomogram showing bilateral masses (arrowed). In this case there was bony ankylosis of the left temporomandibular joint causing almost complctc trismus.
Abnormal
Case 5 /Fig. I j patient aged 11 years presented with trismus and mandibular rctrusion. Associated problems were Duane’s syndrome. submucous cleft palate. vclopharyngcal incompetence, secretory otitis media with conductive deafness. She also had an upper mcsiodcns. Radiographs revealed cervical ribs with massive fusion of cervical vcrtcbrac. Bony masses were found bilaterally in the ramus region with hypoplasia of the right coronoid process (Fig. 9).
This
TREATMENT
Two of the patients had undcrgonc previous surgery to correct mandibular asymmetry and rctrusion. Ramus lcngthcning osteotomies in Case 3 and costochondral grafts in Case 4 had helped improve the appearance but the trismus persisted. All of the cases have undergone further procedures to remove the masses and reliev;e trismus. This has involved exposure of the bone via a combination of intra-oral: prc-auricular or bicoronal approaches (Fig. 10). An extended third molar incision was suc-
Fig. Y - (Cast 5). Orthopantomogram. A large mass is seen on the right side and a smaller one on the left.
Fig. 10 - (Cast I). Operative showins bony mass attached
view of patient at age 26 years, to zygomatic arch (arrowed).
bone masses in klinacl-fcil
svndromc
385
ccssful in most cases but in those with particularly firm union to the zygomatic arch an additional extraoral approch was required. By a mixture of sharp and blunt dissection the masses were identified and removed. In all cases the masses were joined to combinations of the zygomatic arch, articular eminence. lateral pterygoid plate and the maxillary tuberosity by a fibrous joint; this was proven by histological examination. The inferior aspect in some cases lay free in the buccal soft tissues, being readily palpable in the upper buccal sulcus. In others the mass articulated with the rudimentary coronoid process via a fibrous articulation (Fig. 1 I). Although none required trachcostomy for operation, it was necessary to perform librcoptic intubation in some of the cases. Postoperative recovery was uneventful with objective improvement in trismus in all the patients.
KFS with accessory bone in the jaw region has been previously reported (Lawrence et nl., 1985; Rail. 1986). Some of these have actually developed teeth which have erupted into the mouth. The facial abnormalities dcscribcd earlier mainly suggest a defect in the devclopmcnt of the first branchial arch dcrivatives. The cause of this is unclear but it may help to explain the high incidence of conductive deafness as the ossicular chain is a first arch structure. In none of the patients was there any family history of KFS. In Case 2, there is a sibling with spina bifida. There were no problems during pregnancy or delivery in any of the rcportcd casts. Histological examination of resected specimens revealed essentially normal bone with fibrous union to the zygomatic arches and the mandible. In Case 3: the superior articulation was associated with an ostcoid osteoma within the bony mass. The cause of the trismus is due partly to the presence of the bony mass prcvcnting forward trans-
Kg. 11 - (Case 3). Rcxxted skull.
specimen
held in position
on a dry
386
British Journal
of Oral and .Maxillofacial
Surgery
lation of the condyle during opening and partly by its attachment to the coronoid. Those with the connection of the bony mass to the ramus had more severe trismus. Although tracheostomy was not required in any of our cases. facilities for this procedure should always be available. All of the patients were rctrusivc prc-operatively and have rcmaincd rctrusivc postoperatively so removal of the mass does not appear to induce mandibular growth. There was objective improvement in the degree of mouth opening in all the patients post-opcrativcly although in Cast 4 there has been bony ankylosis which has required bilateral gap arthroplastics. Follow up of the patients has ranged from l--5 years and the mouth opening remains good over all. In Case 3 there appeared to be early regrowth of the mass on the right side 2 years postoperatively although function remained satisfactory. It may be worthwhile to remove the mass with a cuff of surrounding tissue to prevent pcriosteal new bone formation. In most cases further surgery will be required to correct the mandibular rctrusion and this has been carried out in two of the casts by standard sagittal split mandibular advanccmcnt and in one cast by bilateral post-condylar grafts. It is advisable that patients showing signs of KFS should be examined at an early age for the presence of these bony masses in the hope that their early removal will allow a more normal mandibular function.
Acknowledgements
References Ball. I. A. (1986). Klippel I;eil syndrome associated with accessory jaws (distomus). &iris/r Dental Journul. 161, 20. Cooper. J. C. (I 976). The Klippel l-‘eil syndrome: a rare cause of cervico-facial deformity. Rrirish &nrcr/ Journal, 140, 264. Feil, A. (1919). I.‘Absencc ct la diminution dcs vcrtebrcs cervicales. Thesis, Librdirc Litterairc et Medic&, Paris. Gorlin, R. J.. Pindborg. J. J. & Cohen, M. M. (1976). Sy~7drome.~ ofrlte Head and Neck. 2nd Ed., pp 408-41 I, London: -McGraw Hill. Gundcrson, C. H., Grecnspan. R. M.. Glaser. G. II. & Lubs. H. A. (1967). The Klippel Fcil syndrome. genetic and clinical reevaluation of cervical fusion. Medicine, 46, 491. Ilelmi. C. & Pruzansky. S. (1980). Craniofacial and extracranial malformations in Klippel Feil syndrome. C/
Douglas,
K. F. Moos: W. S. Hislop
01~1 und Maxillo~&kd Surgery Depurtnzent, Cannieshurn Hospital, G’lusgo~:
SC’MMAR Y. Five female patients with Klippel-Feil syndrome (KFS) are presented with abnormal bony masses in the mandibular ramus region. The features of KFS arc described with assessment and treatment of the five patients. Although congenital duplication of mandibular rami in KFS has been previously documented, we believe this is the first series of patients with this deformity.
suggested there is usually no familial link to KFS. Most cases (>65%) appear to be fcmalc and the frequency of the disorder is in the region of 1 per 30 000-40 000 of the population. It is considered that faulty segmentation of mcsodermal somites in early embryonic development may cause KFS but there is no gross chromosomal anomaly (GOJhn ef al.. 1976) (Fig. 2). Several other fcaturcs associated with KFS have been described and variable expressions of these are et ul., 1967; found in individual cases. (Gundcrson Cooper: 1976; Helmi & Pruzansky, 1980; Nagib et ul.. 1985; Stewart & O’Reilly. 1989) (Table 2) (Figs 2, 3). In this series five Caucasian female patients are reported. They presented to Canniesburn Hospital at ages 6 26 years with variable expression of KFS. They all had bony masses of differing morphology extending from the zygomatic arch region towards the ascending ramus of the mandible and the maxil-
INTRODUCTIOk Klippcl-Fcil syndrome (KFS) has been well documented in the literature since its initial report in 19 12 by Klippel and Feil. Its original description of low occipital hairline. short neck with cervical vertebral fusion and painless limitation of head movement has been modified over the years. In particular the cases have been grouped according to the degree and region of spinal deformity (Fcil, 1919) (Table 1) (Fig. 1). Although autosomal recessive inheritance has been lahle
I - The grouping
Type I Type II Type III
of spinal dcfccts
in KFS
Extensive cervical and upper thoracic vcrwbral fusion. I-2 cervical intcrspacc fusions often associated with hcmivcrtebrae and occipito-atlanteal fusion. Cervical amd lower thoracic or lumber vcrtibral fusion.
Fig. ,l- (Case 5). 3-dimensional CT scan showing ccr\ kal vcrtcbral fusion and cervical ribs.
extensive
Fig. 2 - (Cast 2). Typical appearance of KIS Note neck webbing and in this case right sided macrostomia and low set car. 382
Abnormal
svndrome
383
B
A Fig. 3A, 3H - (Case 4). Facial views. Note gross mandibular
rctrusion
Table 2 - Associated anomalies in KFS Ylanifcstation
Facies
TGck webbing, facial asymmetry. dystopia. low posterior hairline. cleft palate. bilid uvula. jaw duplication, decreased -gag reflex, macrostomia. Strabismus. nysta_emus. chorioreGnal atrophy. Duane’s retraction syndrome Conductive and sensorineural deafness. Wildervanck’s syndrome (deafness, abducent palsy and globe retraction). Vertebral fusion and deformities. scoliosis. cervical ribs. Sprcngel shoulder. spina bifida occulta. Spasticity. syringomyclia. syringobulbia. hemi or quadriplegia. bimanual synkinesis (mirror movement) Congenital heart disease (usually ventricular septal defect).
Fycs tars
Musculoskclctal
Nervous
Cardiovascular Crogenital Others
System
and dystopia.
arches superiorly inferiorly. Thorc (Fig. 5).
System
Central
bone masses in kliouel-feil
and lying free in the buccal soft tissue was flattening of both condylar heads
Cow 2 f Fig. 2) This patient aged 8 years presented with trismus. mandibular rctrusion and defective ‘nasal’ speech. Related problems were bilateral conductive deafness, vclopharyngcal incompetence with decreased gag reflex and a similar commissurc dcfcct to Case I. Radiographs revealed right coronoid aplasia with a bony mass on the right side extending from the rygomatic arch into the buccal soft tissues. The right condylc was poorly formed with a flattcncd head. the left side being relatively normal (Fig. 6).
Renal agenesis, renal. pelvic and urcteral duplication. absent vagina.
Case 3
Supernumerary
This patient aged I I years presented with trismus and mandibular rctrusion. Further findings were ‘commissurc band’ as in cases I and 2. poor soft palate clcvation with a bifid uvula and vclopharyngcal incompetence. She also demonstrated prcauricular tags, conductive deafness and Duane’s syndrome. Radiographs revealed an abnormal bony mass on the right side attached by a fibrous joint to an under-developed coronoid process and an accessory condyle like structure on the left (Fig. 7).
lobe
of lung.
low set
nipples.
lary tuberosity area. In some cases the inferior end lay free in the buccal soft tissues in others it was
actually attached to a rudimentary coronoid by a fibrous joint (Figs 4A. 4B, 4C).
process
Case reports Cusr I
C:a.w 4 (Fig. 3 j
This patient aged 26 years presented with pain in the upper buccal sulcus, mandibular retrusion and trismus. Additional problems were Wildervanck’s syndrome, superventriculal tachycardia and increased gag rcflcx with vclopharyngeal incompctcncc. There was mild macrostomia with a fibrous band running subcutaneously from the left commissure towards the tcmporomandibular joint region. Radiographs revealed hypoplastic coronoid proccsscs bilaterally with triangular shaped bony masses attached to the zygomatic
This patient aged 6 years presented with trismus and mandibular retrusion. She also exhibited Duane’s syndromc. an inert soft palate. velopharyngeal incompetence, conductive deafness. bimanual synkinesis, eczema. pulmonary artery hypertension and ureterococlc. Radiographs revealed lower cervical hcmivcrtebrae and cervical spina bifida occulta. Both condyles were flattened and bilateral bony masses cxtendcd from the c.ygomatic arches to the hypoplastic coronoid proccsscs (Fig. 8).
384
British Journal
of Oral and Maxillofacial
Fig. 4A, 4B - (Case 5). 3-dimensional Fig. 4C - (Case 5). CT scan showing
Fig. 5 - (Case I). Orthopantomogram bony masses (arrowed) and flattening
Fig. 6 - (Case 2). Orthopantomogram. apparent (arrowcd).
Surgery
CT scan showing bony masses (arrowed). position of bony masses (arrowed).
of patient showing of condylar heads.
bilateral
Right sided mass is
Fig. 7 - (Cast 3). Orthopantomogram mass on right and accessory condyle (arrowed).
showing triangular shaped like structure on left
Fig. 8 - (Case 4). Orthopantomogram showing bilateral masses (arrowed). In this case there was bony ankylosis of the left temporomandibular joint causing almost complctc trismus.
Abnormal
Case 5 /Fig. I j patient aged 11 years presented with trismus and mandibular rctrusion. Associated problems were Duane’s syndrome. submucous cleft palate. vclopharyngcal incompetence, secretory otitis media with conductive deafness. She also had an upper mcsiodcns. Radiographs revealed cervical ribs with massive fusion of cervical vcrtcbrac. Bony masses were found bilaterally in the ramus region with hypoplasia of the right coronoid process (Fig. 9).
This
TREATMENT
Two of the patients had undcrgonc previous surgery to correct mandibular asymmetry and rctrusion. Ramus lcngthcning osteotomies in Case 3 and costochondral grafts in Case 4 had helped improve the appearance but the trismus persisted. All of the cases have undergone further procedures to remove the masses and reliev;e trismus. This has involved exposure of the bone via a combination of intra-oral: prc-auricular or bicoronal approaches (Fig. 10). An extended third molar incision was suc-
Fig. Y - (Cast 5). Orthopantomogram. A large mass is seen on the right side and a smaller one on the left.
Fig. 10 - (Cast I). Operative showins bony mass attached
view of patient at age 26 years, to zygomatic arch (arrowed).
bone masses in klinacl-fcil
svndromc
385
ccssful in most cases but in those with particularly firm union to the zygomatic arch an additional extraoral approch was required. By a mixture of sharp and blunt dissection the masses were identified and removed. In all cases the masses were joined to combinations of the zygomatic arch, articular eminence. lateral pterygoid plate and the maxillary tuberosity by a fibrous joint; this was proven by histological examination. The inferior aspect in some cases lay free in the buccal soft tissues, being readily palpable in the upper buccal sulcus. In others the mass articulated with the rudimentary coronoid process via a fibrous articulation (Fig. 1 I). Although none required trachcostomy for operation, it was necessary to perform librcoptic intubation in some of the cases. Postoperative recovery was uneventful with objective improvement in trismus in all the patients.
KFS with accessory bone in the jaw region has been previously reported (Lawrence et nl., 1985; Rail. 1986). Some of these have actually developed teeth which have erupted into the mouth. The facial abnormalities dcscribcd earlier mainly suggest a defect in the devclopmcnt of the first branchial arch dcrivatives. The cause of this is unclear but it may help to explain the high incidence of conductive deafness as the ossicular chain is a first arch structure. In none of the patients was there any family history of KFS. In Case 2, there is a sibling with spina bifida. There were no problems during pregnancy or delivery in any of the rcportcd casts. Histological examination of resected specimens revealed essentially normal bone with fibrous union to the zygomatic arches and the mandible. In Case 3: the superior articulation was associated with an ostcoid osteoma within the bony mass. The cause of the trismus is due partly to the presence of the bony mass prcvcnting forward trans-
Kg. 11 - (Case 3). Rcxxted skull.
specimen
held in position
on a dry
386
British Journal
of Oral and .Maxillofacial
Surgery
lation of the condyle during opening and partly by its attachment to the coronoid. Those with the connection of the bony mass to the ramus had more severe trismus. Although tracheostomy was not required in any of our cases. facilities for this procedure should always be available. All of the patients were rctrusivc prc-operatively and have rcmaincd rctrusivc postoperatively so removal of the mass does not appear to induce mandibular growth. There was objective improvement in the degree of mouth opening in all the patients post-opcrativcly although in Cast 4 there has been bony ankylosis which has required bilateral gap arthroplastics. Follow up of the patients has ranged from l--5 years and the mouth opening remains good over all. In Case 3 there appeared to be early regrowth of the mass on the right side 2 years postoperatively although function remained satisfactory. It may be worthwhile to remove the mass with a cuff of surrounding tissue to prevent pcriosteal new bone formation. In most cases further surgery will be required to correct the mandibular rctrusion and this has been carried out in two of the casts by standard sagittal split mandibular advanccmcnt and in one cast by bilateral post-condylar grafts. It is advisable that patients showing signs of KFS should be examined at an early age for the presence of these bony masses in the hope that their early removal will allow a more normal mandibular function.
Acknowledgements
References Ball. I. A. (1986). Klippel I;eil syndrome associated with accessory jaws (distomus). &iris/r Dental Journul. 161, 20. Cooper. J. C. (I 976). The Klippel l-‘eil syndrome: a rare cause of cervico-facial deformity. Rrirish &nrcr/ Journal, 140, 264. Feil, A. (1919). I.‘Absencc ct la diminution dcs vcrtebrcs cervicales. Thesis, Librdirc Litterairc et Medic&, Paris. Gorlin, R. J.. Pindborg. J. J. & Cohen, M. M. (1976). Sy~7drome.~ ofrlte Head and Neck. 2nd Ed., pp 408-41 I, London: -McGraw Hill. Gundcrson, C. H., Grecnspan. R. M.. Glaser. G. II. & Lubs. H. A. (1967). The Klippel Fcil syndrome. genetic and clinical reevaluation of cervical fusion. Medicine, 46, 491. Ilelmi. C. & Pruzansky. S. (1980). Craniofacial and extracranial malformations in Klippel Feil syndrome. C/
