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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 6  |  Issue : 1  |  Page : 38-41

A rare case of klippel feil syndrome with cleft palate: A case report


Department of Oral and Maxillofacial Surgery, YMT Dental College, Navi Mumbai, Maharashtra, India

Date of Web Publication11-Aug-2016

Correspondence Address:
Shreyas H Gupte
29/C, Chaudhary House, Knotacni Wadi, VP Road, Mumbai - 400 004, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-6360.188229

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  Abstract 

Klippel-Feil syndrome (KFS) is a rare condition also known as synostosis of cervical spine, first described in the medical literature in 1912. It consists of the triad of symptoms such as short neck, limitation of neck movements, and low posterior hairline and also associated with somatic diseases and defects such as scoliosis, anomalies in urogenital system, congenital heart defects, deafness, facial asymmetry, synkinesis, or mirror movements. KFS manifests in the oral cavity with cleft palate, limitation of mouth opening, hypodontia oligodontia, and micrognathia.

Keywords: Cleft palate; congenital short neck; Klippel-Feil syndrome; oligodontia


How to cite this article:
Gupte SH, Hawaldar C, Vettiyatil M. A rare case of klippel feil syndrome with cleft palate: A case report. Indian J Multidiscip Dent 2016;6:38-41

How to cite this URL:
Gupte SH, Hawaldar C, Vettiyatil M. A rare case of klippel feil syndrome with cleft palate: A case report. Indian J Multidiscip Dent [serial online] 2016 [cited 2020 May 30];6:38-41. Available from: http://www.ijmdent.com/text.asp?2016/6/1/38/188229


  Introduction Top


Klippel-Feil syndrome (KFS), which is also called as synostosis of cervical spine, is not only sporadic but may also be inherited. The approximate appearance of this anomaly has been estimated to be in 1:40,000-1:42,000 births. KFS occurs as a result of a failure in normal segmentation of cervical mesodermal somites during embryonic development. This failure occurs at 2 nd -8 th weeks of gestation with an unknown cause. [1]

Anomalies associated with KFS are: [2]

  • Anomalies in urogenital system (65%)
  • Anomalies of cardiovascular system (15.35%)
  • Deafness or hearing lesion (36%)
  • Facial asymmetry and platybasia (20%)
  • Synkinesis or mirror movements (20%)
  • Anomalies of gastrointestinal tract (6%).
Restricted mouth opening is also observed in these patients. Oligodontia and hypodontia or tooth agenesis both in primary and permanent dentition are seen in KFS. [2] KFS (dystrophia brevicollis) was described for the first time in 1912, by Maurice Klippel and Andre Feil. It is caused by failure in the normal segmentation of the cervical vertebrae during the early weeks of fetal development (mostly fusion of C2-C3 vertebrae). It is known for the triad of symptoms such as the short neck, limitation of neck movements, and low posterior hairline. Patients exhibit a smaller lower third of the face and facial asymmetry with associated dental abnormalities. The exact prevalence of this syndrome is unknown in India, and very few cases have been reported till date. Mental retardation may also be associated with the condition which usually affects female patients although affected male patients have been described. [3] Clefting of the secondary palate is present in 15-20% of the cases. [4]

Skeletal malformations are one of the typical symptoms in KFS:

  • Number of vertebrae may be either reduced or increased
  • Scoliosis occurs in 60% of cases of KFS
  • Sperngel's deformity an elevation or malposition of the scapula which results in various degrees of shoulders asymmetry and dysplastic manifestations that cause limitations in motion and function of shoulder girdle is also seen.

  Case Report Top


A 25-year-old female was referred to the Department of Oral and Maxillofacial Surgery, YMT Dental College and PG Institute, Kharghar, Navi Mumbai, India for the repair of cleft palate. It was observed that patient was thinly built, with abnormal movements of the limbs in the upper extremity and head turned toward the left side [Figure 1]. Clinical examination and history revealed that the patient had normal milestones, pre- and post-natal weight was good and apparently the restricted neck movement was not so pronounced though they had noticed a mild deformity earlier but no medical consultation was sought.

On general examination the following points were noted:
Figure 1: Clinical photograph

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  • The patient had a short neck, was unable to hold the head straight (head turned to left side) [Figure 2] and [Figure 3]
  • Low posterior hairline and prominent right sternocleidomastoid (SCM) muscle [Figure 4]
  • Broad forehead, mild facial asymmetry, and a triangular face
  • Sprengel's deformity was also seen (shoulders were at slant toward the left side) [Figure 3]
  • Temporomandibular joint movements were normal with no pain, tenderness, or clicking with a good mouth opening.
External examination revealed synkinetic movements of the upper limbs. The patient also had a nasal twang.
Figure 2: Limited neck movement with turning of head towards left side

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Figure 3: Sprengel's deformity

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Figure 4: Low posterior hairline with hypertrophy of right sternocleidomastoid

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Intra-oral examination revealed:

  • Midline cleft of the hard and soft palate with a pebbled appearance of surrounding palatal mucosa [Figure 5]
  • Cervical spine X-ray revealed complete fusion of C1-C2 vertebrae [Figure 6]
  • Hypodontia with presence of multiple carious teeth and root stumps [Figure 7]
  • X-ray chest, electrocardiogram, blood investigation values were within normal limits.
Considering the investigations and after consultation with the neurologist, ophthalmologist, ear, nose and throat, cardiologist a diagnosis of KFS was made. Since the patient was primarily referred for cleft repair, that was taken up on the priority basis, and the patient was counseled for the subsequent treatment. The patient was taken under gestational age for repair of cleft palate using Langenback technique [Figure 8]. In the same sitting bipolar release of right SCM muscle was done to treat the muscular torticollis and was given a cervical collar to maintain the neck stability followed by long-term physiotherapy.
Figure 5: Cleft palate involving hard and soft palate

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Figure 6: Cervical spine X-ray showing complete fusion of C1 and C2 vertebrae

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Figure 7: Orthopantomogram

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Figure 8: Surgical closure of cleft palate using Lagenback technique

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  Discussion Top


Some of these familial occurrences are attributed to single factor inheritance such as the familial C2-C3 fusion which may be an autosomal dominant trait at times. [5] The evidence for a recessive form of cervical vertebral fusion is less convincing and to data some exogenous factors have been proposed as causative agents. [6] Clinical evidence of congenitally fused segments of the C2-C3 vertebrae [Figure 9] is usually not detected until the subluxation is severe enough to cause damage to the spinal cord as a result patients of this syndrome are identified accidently. [7] The KFS anomaly may also be found in Wildervanck syndrome which is specifically associated with deafness. Duane syndrome (lateral rectus palsy with retraction of the globe of the affected eye on abduction), and hearing loss. [8]
Figure 9: Lateral cephalogram

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KFS, beside the triad of symptoms, is also known for facial asymmetry. Oral manifestations include cleft palate, oligodontia, micrognathia, trismus, and bruxism. Nasal twang is observed due to cleft palate. [9] Asymmetry in the orbital area, a deficient mid-face as well as ptosis and downward obliquity of the palpebral fissures are noticed. Patients may exhibit a smaller lower third of the face along with hypoplasia of depressor angularis oris muscle. [10]

Warkany (1971) defined KFS as an anomaly of spine characterized by faulty segmentation of two or more cervical vertebrae. It is a rare congenital malformation characterized with the triad of short neck, low hairline, and restricted neck movements. Secondary features include scoliosis, kyphoscoliosis, Sprengel's deformity, low placed nipples, torticollis of muscular or osseous origin, disproportionate length of the upper and lower extremities and trunk give the patient a simian appearance. [11] It is considered that fusion of the cervical vertebrae causes the mandible to remain compressed against the chest and consequently forces the tongue to remain between the palatal shelves, at a time palatal closure would normally be taking place. This would tend to lead to the formation of a palatal cleft but with no interference in the normal development of the lip and alveolus. Mirror movements have a strong association to KFS. [2],[12]


  Conclusion Top


A syndromic patient generally manifest with multiple systemic problems thus warrants a critical comprehensive evaluation. This is a special case of cleft palate associated with KFS since very little or no literature is available in oral and maxillofacial surgery journals as regards KFS. This syndrome is associated with many skeletal and systemic anomalies about 15.35% have cardiovascular systemic defects such as coronary heart disease and myocardial infarction, and 60% have scoliosis of the spine which can increase the risk of surgery and intubation thus apt referrals and investigations should be done preoperatively to rule out associated defects. Occipitalization of the atlas also increases the anteroposterior distance of the pharynx and impedes the velopharyngeal valving. In conclusion, comprehensive presurgical evaluation with a multidisciplinary approach is of paramount importance in the management of syndromic patients undergoing surgical procedures.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Senoglu M, Ozbag D, Gumusalan Y. Two cases of Klippel-Feil syndrome. Int J Anat Variat 2008;1:6-7.  Back to cited text no. 1
    
2.
Paradowska A, Szel¹g J, Slawecki K. Klippel-Feil syndrome - Review of the literature. Dent Med Probl 2007;44:491-4.  Back to cited text no. 2
    
3.
Shakeel MK, Jimsha VK, Srinivasan SV, Daniel M.J A case report. Int J Dent Case Rep 2013;3:20-4.  Back to cited text no. 3
    
4.
Subramaniam P, Babu KL, Sugnani S. Rare association of Klippel Feil syndrome with cleft palate and congenital cardiac deformities: A case report. J Clin Pediatr Dent 2010;35:213-6.  Back to cited text no. 4
    
5.
Patel P, Patel A, Polra Y, Sisodia J, Patel KR, Leuva AT. Klippel-Feil syndrome: A case report. Int J Res Med 2014;3:100-1.  Back to cited text no. 5
    
6.
Sivri A, Mentes C, Hascelik Z, Ozker R. Klippel-Feil syndrome: A case report and review of literature. J Islamic Acad Sci 1990;3:163-6.  Back to cited text no. 6
    
7.
Lagravère MO, Barriga MI, Valdizán C, Saldarriaga A, Pardo JF, Flores M. The Klippel-Feil syndrome: A case report. J Can Dent Assoc 2004;70:685-8.  Back to cited text no. 7
    
8.
Foyaca-Sibat H, Ibañez-Valdés L. Klippel-Feil syndrome "Plus". Internet J Intern Med 2002;4:1.  Back to cited text no. 8
    
9.
Boraz RA, Irwin DH, Van Blarcom C. The dental rehabilitation of a patient with Klippel-Feil syndrome and Sprengel's deformity. Spec Care Dentist 1986;6:22-4.  Back to cited text no. 9
[PUBMED]    
10.
Dubey SP, Ghosh LM. Klippel-Feil syndrome with congenital conductive deafness: Report of a case and review of literature. Int J Pediatr Otorhinolaryngol 1993;25:201-8.  Back to cited text no. 10
    
11.
Helmi C, Pruzansky S. Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J 1980;17:65-88.  Back to cited text no. 11
[PUBMED]    
12.
Royal SA, Tubbs RS, D'Antonio MG, Rauzzino MJ, Oakes WJ. Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. AJNR Am J Neuroradiol 2002;23:724-9.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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Abstract
Introduction
Case Report
Discussion
Conclusion
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