6 year old boy with short neck, head and neck deviation to the left side, shoulder asymmetry and limitations of left shoulder movements in abduction and elevation.
The patient initially had plain films of the thorax which showed elevation of the left scapula.
He then had MR of the left shoulder with sagittal and coronal reformatting which showed the affected scapula to be elevated and adducted with its inferior pole medially rotated while the glenoid faced inferiorly. There were also additional vertebral findings, such as fusion of C5 to C7 vertebral bodies.
Sprengel's deformity is a complex congenital skeletal abnormality in which the patient has one or both shoulder blades that sit higher on the back than normally (left is the most common location) [1]. It is also usually associated to changes in axial rotation, shape, and size of the scapula [1]. This condition also involves regional muscle hypoplasia or atrophy, which causes limitation of shoulder movement [2]. The deformity results from failure to descent of the scapula from the C5-T1 position to the T2-T7 position at birth which probably occurs between the 9th and 12th week of gestation.
Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone [2, 3], which was not seen in this case.
Klippel-Feil syndrome (KF) is also a complex but heterogenous entity that results in congenital cervical vertebral fusion [4]. It was originally described by Maurice Klippel and Andre Feil in 1929 with patients having a triad of short neck, low posterior hair line and limited range of motion [5].
KF is believed to result from faulty segmentation along the embryo’s developing axis during the 3rd to 8th weeks of gestation [4]. Mutations of GDF6 and GDF3 genes can cause KF. These provide instructions for making proteins that belong to the bone morphogenetic protein family, which is involved in regulating the growth and maturation of bone and cartilage [6].
Numerous associated abnormalities of other organ systems may be present: vertebral (scoliosis, spina bifida, cervical spondylosis), Sprengel’s deformity, torticollis, pterygium coll, cleft palate, genitourinary (hydronephrosis, tubular ectasia, ovarian agenesis, absence of vagina), pulmonary system (ectopic lung, agenesis of lung, bronchogenic cyst), cardiovascular malformations (interventricular septal defect, patent ductus arteriosus, coarctation of aorta, patent foramen ovale) [4, 7].
Treatment for KF is symptomatic and includes physical therapy. Surgery may be needed to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. If the KF occurs in association with Sprengel’s deformity, the high scapula may be surgically restored to its normal position [8].
The prognosis for most individuals with KF is good if the disorder is treated early. Activities that can injure the neck should be avoided. Other diseases associated with the syndrome can be fatal if not treated, or if found too late [5].
Klippel–Feil syndrome with an assotiated Sprengel Deformity
1. From the provided frontal X-ray image, the left scapula appears higher in position, with obvious asymmetry compared to the opposite side, suggesting incomplete downward displacement or a developmental anomaly of the left scapula.
2. In the MRI coronal and sagittal sequences, part of the cervical vertebrae show signs of congenital hemivertebra or fusion, manifested as abnormal alignment of the cervical spine, segmental shortening or fusion of the cervical vertebrae.
3. The left scapular region is located at a higher position in the cervicothoracic junction. Surrounding muscle groups (e.g., trapezius, levator scapulae) appear underdeveloped or atrophic locally.
4. No obvious imaging signs of “Omovertebral bone” (abnormal bony connection between the scapula and the cervical spine) are observed.
5. The clinical presentation of the child, including a short neck, head tilt to the left, and restricted range of motion in the left shoulder joint, aligns with the imaging findings of abnormal scapular position and cervical vertebral anomalies.
Based on the patient’s age, clinical features (such as short neck, limited shoulder joint mobility, and elevated scapular position), and imaging findings indicating congenital scapular developmental abnormalities and signs of cervical vertebral fusion, consider the following possible diagnoses:
Considering the patient’s age, clinical presentation of short neck and lateral head tilt, elevated left scapula, and imaging evidence of cervical vertebral fusion and restricted shoulder mobility, the most likely comprehensive diagnosis is:
Sprengel’s Deformity (Congenital High Scapula) combined with Klippel-Feil Syndrome.
Further cervical spine functional assessment and corresponding neurological examinations are needed to rule out spinal cord or nerve compression. If necessary, additional 3D CT reconstruction, genetic testing, or other imaging examinations may be required to clarify the extent of the deformity and to formulate a subsequent treatment plan.
1. Conservative Treatment:
- Regular follow-up and posture training: Under the guidance of a professional rehabilitation therapist, perform stretching and muscle-strengthening exercises for the shoulder and neck regions to improve local muscle weakness and tension.
- Physical therapy: Local heat application, physiotherapy, or massage can help relieve muscle stiffness and maintain flexibility in the shoulder and neck regions.
- Supportive braces: In some cases, custom neck braces or supports may be used to stabilize the cervical spine and relieve pain or prevent worsening deformities due to movement.
2. Surgical Treatment:
- For patients with severe symptoms or significant deformities that impact quality of life, surgical intervention may be considered, such as cervical fusion release, scapular descent correction, or related soft tissue reconstruction.
- The timing of surgery should be evaluated based on growth and development, neurological function status, and the severity of the deformity.
3. Rehabilitation Exercise Prescription (Based on the FITT-VP Principle):
(The following should be carried out under the guidance of a professional rehabilitation therapist or pediatric orthopedic specialist)
Precautions:
• Be alert to cervical instability or nerve compression symptoms. If significant neck pain, upper limb numbness, or decreased muscle strength occurs, stop training immediately and revisit the doctor.
• Provide adequate protection during training. Do not force stretching or rapidly over-rotate the cervical spine or shoulder joints.
• If there are concerns about cardiopulmonary function, bone health, or other factors, seek specialist evaluation before formulating or adjusting the exercise plan.
This report is a reference analysis based on the provided images and clinical information. It does not replace in-person consultations or professional medical advice. Specific treatment and rehabilitation plans must be carried out under the guidance of qualified physicians and rehabilitation therapists.
Klippel–Feil syndrome with an assotiated Sprengel Deformity