Dento-Skeletal Implications of Klippel–Feil Syndrome: A CASE REPORT
by Violet Barbosa, DDS* and Anthony L. Maganzini, DDS,MSD+

 

 

ABSTRACT

 

Klippel-Feil Syndrome is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae. It presents with a high frequency of cleft lip and or palate and occasional oligodontia in the primary and permanent dentition, craniofacial asymmetry, maxillary constriction and velopharyngeal insufficiency. Klippel-Feil Syndrome (KFS) is also known as Congenital Cervical Synostosis or Cervical Vertebral Fusion. Klippel and Feil1,2,3   first described it in 1912 as a classic triad comprising of a short neck, low posterior hairline and a painless limitation of head movement. It is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae4. The correct incidence of this syndrome is unknown5 and the most consistent findings are limited cervical motion4. The craniofacial findings include an appearance of the head located on the thorax3, cleft vertebrae and fusion of the atlas with the occipital bone. Additional anomalies are hemifacial microsomia and prominent nasal bridge6.

According to Helmi, 15% of the KFS cases reported had palatal clefts7. Oral findings include oligodontia in the primary and permanent dentition, micrognathia and bruxism8. Abnormal bony mass in the ramus and zygomatic region has been reported3. Sudden onset of velopharyngeal insufficiency and hoarseness following a minor neck torsion injury has been reported in one case9. This was due to compression of the brain stem by the odontoid process through basilar invagination. Other abnormalities reported include neurological and cardiovascular anomalies, ears deformities, hearing loss, tortiocollis, scoliosis, Sprengel’s deformity (malformation of the scapula), renal and urogenital anomalies, respiratory problems, speech and ocular defects.

 

CASE REPORT

 

Past Medical History

No abnormalities were noticed in the Caucasian male baby at birth. When discharged from the hospital ND was referred to pediatric orthopedics because of his “tight hands and neck”. The diagnosis of KFS was made during his first year. Developmental milestones involving standing and walking were delayed and his speech was nasal.  

Past diagnostic investigations included an MRI examination of the brain and spine at ten months of age that revealed a normal brain, normal cervical spine and spinal cord. The skull base was asymmetric with the possibility of an asymmetric atlanto-axial coalition or other congenital cervico-cranial junction abnormality. The right floor of the posterior fossa and the petrous bone appeared to be higher than the left. A repeat MRI at age five years revealed stable asymmetry of the skull base and petrous bones, normal alignment of the cervical spine and underdeveloped mastoid sinuses. There appeared to be fusion of  C2-3 vertebrae  consistent with Klippel-Feil Syndrome.

 X rays of the spine at age 4 and 9 displayed fusion of C2-C3. The remainder of his vertebral bodies and posterior elements throughout the entire spine were unremarkable.  Hands and wrist radiographs at age four revealed the first metacarpals to have a somewhat short broad configuration.

Bilateral hearing loss was 40% in both ears and was restricted to low tones.The patient now eleven years ten months, presented for orthodontic treatment. His height and intelligence were normal. He revealed a short neck, restricted head movements and a low-neck line, all these comprising the classic triad for Klippel-Feil Syndrome. He had right side torticollis. Extra orally he presented an absence of eyebrows, asymmetry in the orbital area with inadequate infraorbital and malar support on the right side, a deficient midface, bilateral ptosis and downward obliquity of the palpebral fissures.(figure 1) The pinnas were normal. The external auditory canals were tortuous and vertically oriented. His neck was short and webbed.(figure 2)

 

Intraorally, he presented in the late mixed dentition with numerous congenitally missing permanent teeth, over retained severely worn out primary teeth, minimal overjet, a deep bite, large conical maxillary central incisors and cross bite of upper permanent laterals incisors.(figure 3) Occlusion was Angle Class II Div I, with moderate spacing in both arches, a cant of the occlusal plane and a deep palatal vault. No hypertrophied tonsillar tissue was noted. His mouth opening was restricted to 25mm. TMJ examination revealed bilateral clicking. He had chewing difficulty and velopharyngeal insufficiency.

 

Examination of the extremities revealed decreased extension at both elbows. His left leg appeared longer than the right, thus forcing a pelvic tilt when the patient walked.

 

DIAGNOSTIC TOOLS 

At the current appointment, radiographs included a panoramic X-ray(figure 4) that revealed oligodontia with missing maxillary second premolars and second and third molars bilaterally. The upper cuspids were impacted. Mandibular second and third molars were bilaterally absent as well as both central incisors and a lower left second premolar. Additionally over retained primary canines were noted in each quadrant as well as three over retained mandibular primary incisors. Both the mandibular canines and the left second bicuspid were impacted.

 

Occlusal radiograph of the maxillary arch showed the presence of a submucosal cleft.(figure 5)

Figure 4. Panorex Impacted # 6,11,22 and 27 Missing  # 1,2,4,13,15,16,17,18,20,24,25,31 and 32 Over retained # A,C,H,J,K,M,N,O,P,R and T	Figure 5. Upper occlusal radiograph showing presence of a submucosal cleft.

 

The lateral cephalogram (figure 6)revealed an abnormality in the cranial base in the region of the occiput, C1, C2 and C3. The posterior cranial base seemed to be somewhat vertically inclined leading to a decreased saddle angle. Basion was clearly demarcated and was superiorly positioned. The lateral cephalometric analysis(Table 1) revealed a normal relationship between the skeletal bases of the maxilla and the mandible in the anterior-posterior plane. In the vertical plane he displayed a hypodivergent growth pattern. He had a decreased midface, mildly proclined maxillary and mildly retroclined mandibular anteriors.

Figure 6. Lateral Cephalogram – note abnormality in the posterior cranial base and C1-3, low facial growth with decreased vertical development.

 

The PA cephalogram (figure 7) revealed asymmetry of the cranial base in the occiput region with the right side being higher. The right side of the facial skeleton measured smaller than the left confirming the presence of a mild hemifacial microsomia. The presence of a submucosal palatal cleft was evident.

Figure 7. Posterior Anterior Cephalogram - note the asymmetry in the maxilla, mandible and occipital base suggesting mild hemifacial microsomia. Also note the presence of cleft palate (submucous cleft) and a short neck.

 

DISCUSSION

It has not been determined whether the craniofacial and oral findings namely hemifacial microsomia, oligodontia, velopharyngeal insufficiency and trismus are of a casual association or if they are truly related by any malformation mechanism with Klippel-Feil Syndrome.

Clefts of the palate have often been found in KFS cases but an interesting fact is that the malformation of the cervical vertebrae (in the absence of other stigma of KFS) occurs in higher frequency in patients with cleft palate with or without cleft lip than in the general population6. It has been suggested that there might be a functional developmental relationship between cleft palate and the cervical vertebrae10,11. Individuals with this syndrome without cleft palate tend to have high arched palates. A submucosal cleft was revealed on the occlusal radiograph and on the PA cephalogram although clinically it was difficult to see any evidence for the same.

Spinal deformities are of interest to the dental surgeon as inability to extend the neck often leads to difficulties during dental treatment11. However the cervical deformity is not considered a contra-indication to treatment.  Treatment for Klippel-Feil syndrome is symptomatic and prognosis for most individuals is good if the disorder is detected early and treated appropriately. Early detection helps to render necessary care but detection is often complicated by the fact that in young patients the presence of cervical fusion cannot be readily determined because ossification has not yet progressed to indicate lack of segmentation9.

Orthodontic treatment for this patient has been staged. A first phase plan to extract all primary canines was instituted to create space and encourage eruption of the permanent canines. The lower right primary lateral incisor was extracted to create space for the succedeneous lateral, which was in linguoversion. A maxillary Hawley appliance with coffin springs and anterior bite plate was delivered and the patient asked to wear it for at least eight hours a day. Upon activation the coffin springs will flare the incisors thus obtaining a normal overjet. The anterior bite plate will encourage eruption of the posterior teeth thus opening the bite and stop the incisal wear. Comprehensive nonextraction orthodontic treatment will follow.

Klippel-Feil Syndrome presents a wide spectrum of signs and symptoms namely asymmetry of the face, temporomandibular dysfunction, restrictive mouth opening, palatal clefts including submucosal types and oligodontia which are of interest to the dental surgeon.

 

Table 1. Cephalometric Analysis

 

 

 

REFERENCES

 

1.         Klippel M, Feil A. Un cas d’absence des vertebres cervicales, Nouv Iconogr Salpet. 1912;25:223-250.

2.         Feil A. L’absence et la diminution Des vertebres cervicales. Thesis, Libraire Litteraire et Medicale, Paris, 1919.

3.         Gorlin RJ,Cohen Jr MM, Hennekam RCM, Syndromes of the Head and Neck (fourth edition), Oxford University Press, 2001.

4.         Curcione PJ, Mackenzie W. Klippel-Feil Syndrome. Clinical Case Presentation, Orthopaedic Department, Wilington, Delaware, The Alfred I. Dupont Institute, Septeber 1995.

5.         Gray SW, Romaine CB, Skandalaskis. Congenital fusion of the cervical vertebrae. Surg Gynecol Obstet 1964;118(2):373-385.

6.         Ozdiler E, Akcam MO, Sayin MO. Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female, J Clin Pediatr Dent 2000,24,3,249-54.

7.         Helmi C, Pruzansky S. Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J 1980;17(1):65-88.

8.         Papagrigorakis MJ, Synodinos PN, Daliouris CP, Metaxotou C. De Novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. Eur J Pediatr 2003;162(9):594-7.

9.         Derkay CS, Grundfast KM, McCullough DC. Sudden onset of velopharyngeal insuffiency in Klippel-Feil syndrome. Ear Nose Throat J 1990;8(8):548-52.

10.       Ross RB, Lindsay WK. The cervical vertebrae as a factor in the etiology of cleft palate. Cleft Palate J 1965;2(36):273-281.

11.       Cooper JC, The Klippel-Feil syndrome, A rare cause of cervico-facial deformity. Brit dent J 1976;140(8):264-8.

12.       Steiner C. Cephalometrics for you and me. Am J Orthod 1953;39:729.

13.       DiPaolo RJ, Philip C, Maganzini AL, Hirce JD. The quadrilateral analysis; a differential diagnosis for surgical orthodontics. Am J Orthod 1984;86:470-482.

14.       Bjork A. Cranial base development. Am J Orthod 1955;41:198-225.

 

 

  

*  ORTHODONTIC RESIDENT

+  DIRECTOR OF ORTHODONTICS

 

 

Montefiore Medical Center

The University Hospital for Albert Einstein College of Medicine

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