Indian Journal of Medical Specialities

: 2022  |  Volume : 13  |  Issue : 3  |  Page : 195--197

Klippel‒Feil syndrome associated with mirror movements: A rare case report

Atul Mittal, Ankit Chamoli 
 Department of General Medicine, Bhagat Phool Singh Government Medical College for Women, Khanpur Kalan, Sonipat, Haryana, India

Correspondence Address:
Dr. Ankit Chamoli
Bhagat Phool Singh Government Medical College for Women, Khanpur Kalan, Sonipat, Haryana


Klippel‒Feil syndrome, is a congenital disorder characterized by congenital fusion of two or more cervical vertebrae. Classically, there is triad of short neck, a low posterior hairline, and a limited range of neck movements. Less than half patients present with all three classical features. The presence of other anomalies may be associated with increased morbidity so complete evaluation and further management are critical in every case. Here, we are reporting a case with all clinical triad with associated mirror movements.

How to cite this article:
Mittal A, Chamoli A. Klippel‒Feil syndrome associated with mirror movements: A rare case report.Indian J Med Spec 2022;13:195-197

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Mittal A, Chamoli A. Klippel‒Feil syndrome associated with mirror movements: A rare case report. Indian J Med Spec [serial online] 2022 [cited 2022 Oct 4 ];13:195-197
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Klippel‒Feil syndrome (KFS) is a congenital spinal malformation associated with developmental anomalies of skeletal, neurological, cardiovascular, and genitourinary system. In KFS, there is triad of short neck, low posterior hair line, and limited range of neck movements, especially on lateral bending. In <50% of cases, all the three classical abnormalities are found. It is reportedly present in one of 40000 births. Female are affected more commonly (57%–70%).[1],[2]

KFS is characterized by incorrect union or fusion of two or more cervical vertebrae. It is associated with several structural defects and rarely mirror movements (MMs).[1],[3]

 Case Report

A 12-year-old boy presented to our department with complaints of involuntary movements of hands and concerns of short stature. Involuntary movements were only present in hands. Movements of one hand occurred during voluntary movement of other hand that appears to replicate the timing and type of movement being carried out. It was more pronounced with movement of fingers and thumbs in activities such as writing, playing instruments, holding objects, etc., and less appreciated with movement of whole arms. He had no difficulty in walking, climbing stairs, and running. The patient had a history of not gaining height. He had restriction of neck movement, especially on rotational and lateral bending. He was born out from nonconsanguineous marriage. There was no antenatal history of fever, hypertension, drug or substance abuse during pregnancy. Patient was born via full term normal vaginal delivery at hospital without any complications. He had normal developmental milestones and complete course of vaccination. He had a history of bilateral strabismus which was operated at the age of 7 years and is fully corrected. He has normal intelligence and his scholastic performance is satisfactory.

On examination, he is well built, height of 140 cm (which is normal for his age) and weight of 31 kg with BMI of 15.8 kg/m2, short neck (neck length–8.57 cm normal mean length is 15.5), low hair line [Figure 1], and bilateral short fourth metatarsal. There was no facial asymmetry. Skeletal examination shows limitation of neck movement. He can perform full flexion but there is marked limitation of extension, rotation, and lateral bending movements. Scapula was in normal position and no obvious scoliosis. Cardiovascular system (CVS), respiratory, and abdominal examinations revealed no abnormality. IQ of patient was 96. Neurological examination was normal apart from MMs. All routine laboratory investigations were within normal limit.{Figure 1}

On radiological examination showed fusion of cervical vertebrae (C1-C3) and block vertebrae [Figure 2].{Figure 2}

X-ray bilateral foot showed short fourth metatarsal [Figure 3].{Figure 3}

Magnetic resonance imaging cervical spine and brain showed block vertebrae C2-C4 along with basilar invagination with evidence of cerebellar vermis herniation via foramen magnum [Figure 4].{Figure 4}

Diagnosis of KFS was made on the basis of clinical and radiological features.

Some important investigations were performed to look for entire spectrum of disease. Electrocardiography and two-dimensional Echocardiography (ECHO) were normal. Chest X-ray was normal. ultrasonography of neck, abdomen, and pelvis reveal no abnormality. Pure-tone audiometry (PTA) was normal. As MMs were quite apparent, investigations such as percutaneous electrical brain stimulation and magnetic brain stimulation were not performed.

Orthopedic consultation was taken but advised no active intervention as the patient was asymptomatic and no neurological involvement was present. Physiotherapy was advised. The patient was advised regular follow-up to monitor for the development of complications later in the life.


KFS is characterized by variable fusion of cervical or cervicothoracic vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during 3‒8 weeks of gestation. It may be familial or sporadic. It may be associated with other anomalies such as congenital scoliosis or kyphosis (60%), Sprengel deformity (30%) and torticollis, hearing loss (30%), facial asymmetry and flattening of the neck (20%), congenital heart disease (4%–14%), renal disease (35%), synkinesis or MMs (20%) and cervical canal stenosis.[4],[5]

Congenital malformations of the heart include ventricular septal defect (most common), coarctation of aorta, patent ductus arteriosus, mitral valve insufficiency; 25%–50% of patients also have hearing loss. Eye abnormalities include strabismus, nystagmus, or coloboma. Patients can also have craniofacial anomalies. Skeletal abnormalities include congenital scoliosis or kyphosis (MC), Sprengel deformity, and torticollis. Testicular agenesis or dysgenesis with abnormal sexual differentiation may be occasionally present. Very rarely, an intellectual disability is reported in these children.

Neurological complications can be congenital like MMs or can be acquired due to the instability of the vertebrae leading to hypermobility causing spinal cord compression.

MM refers to simultaneous contralateral, involuntary, and identical movement that accompany voluntary movements. Although Erlenmeyer[6] first applied the term MM in 1879, the definition of MM as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al., in 1991.[7] MMs are common at the age of 4 years. These tend to disappear before 10 years of age coincident with myelination of the corpus callosum. Significant MMs are rare in adults and if present represent abnormalities of the central motor drive to the relaxed limb and considered pathological. MM has been described in association with several neurologic conditions such as cerebral palsy, cervico-medullary junction anomaly, cerebrovascular disease, Parkinson's disease, certain symptomatic epilepsies, Friedreich's ataxia, phenylketonuria, Kallmann syndrome, high cervical spinal cord malformation, in association with alien hand syndrome (vascular lesion) and in certain psychiatric conditions such as obsessive‒compulsive disorder and schizophrenia.[8]

Various radiological abnormalities seen are: vertebral fusion: fused facets and spinous processes, anteroposterior narrowing of the vertebral bodies, hemivertebrae, omovertebral bone, spina bifida, associated scoliosis, and Sprengel deformity.

Treatment for KFS is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful. Appropriate medication, rehabilitative, and surgical therapy should be given if other system involvement occurs. Neurological deficits and persistent pain are indications for surgery. Development of a compensatory curve in the thoracic spine may require surgical intervention or bracing. Symptomatic spinal stenosis may require decompression and fusion.

The outcome for most individuals with KFS is good if treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.

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.

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Conflicts of interest

There are no conflicts of interest.


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