Klippel-Feil syndrome with Sprengel’s Deformity
M.E. Boersma1 P.T.P.W. Burgers1,2 D.R.J. Kempink1,3
1 Department of Orthopaedic Surgery, Leiden University Medical Center, Leiden, The Netherlands 2 Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands 3 Department of Orthopaedics and Sports Medicine Surgery, Erasmus Medical Center – Sophia Children’s Hospital, Rotterdam, The Netherlands
Corresponding author: M.E. Boersma, moniekboersma@hotmail.com
Klippel-Feil syndrome and Sprengel’s deformity are rare congenital disorders which often co-exist. Recognition of these conditions can be complicated due to the low prevalence and the large variability of symptoms. If the symptoms are known, the abnormalities are easy to diagnose. A correct diagnosis is important for providing correct information and for possible implementation of treatment. We describe a case of a two-year-old boy with these disorders, which had not been recognized before.
Introduction Sprengel’s deformity is a rare condition, but at the same time the most common congenital shoulder anomaly in children. The exact incidence is unknown, since the condition can be asymptomatic and therefore remain undiagnosed. The abnormality is characterized by dysplasia, elevation of the scapula and medial rotation of the scapula tip. As a result, the glenoid faces caudal, resulting in an abnormal arm movement pattern. It is equally common in boys and girls and can be both uni- and bilateral.1 Sprengel’s deformity is associated with other conditions, including congenital scoliosis (35-55%), kidney disease, and co-existing in about 6-30% of patients with the Klippel-Feil syndrome (KFS).2,3,4
The classic triads of KFS are a short neck, low hairline, and limited neck mobility. Although all three symptoms only occur in 50% of the cases.5 Due to the rarity of the condition and the wide variety and severity of symptoms, the age of diagnosis also varies greatly, from childhood until young adults (2-19 year).6 Early recognition of the KFS and Sprengel’s deformity can prevent misdiagnosis and unnecessary parental uncertainty. The following case illustrates this.
Patient A 25-month-old boy was referred to our outpatient clinic for a third opinion regarding abnormal left shoulder mobility. Previous paediatric and paediatric-physiotherapist assessment had failed to provide a diagnosis. Since birth the boy had an unchanged limited anteflexion (< 110°), abduction (< 90°) and adduction (0°) of the left glenohumeral joint, with normal external and internal rotation. A postpartum diagnosed torticollis was most likely due to an ultrasonically confirmed bleeding from the left sternocleidomastoid muscle. The resulting plagiocephaly with a clearly preferred leftward position was treated with helmet regression therapy. The dermatologist recently diagnosed cutaneous mastocytosis. The further medical history was unremarkable. The milestones of growth and development were within the norm. On physical examination we saw a healthy boy with a previously documented strikingly short, broad neck with a 10-degree limited rotation to the left, a narrow shoulder contour on the left, and a palpable neck rib. The spine was perpendicular, but the scapula on the left was smaller and positioned higher than the right scapula (Figure 1). The scapula-thoracic rhythm was disturbed, with limited motion of the scapula during abduction. Thus, leading to a clinical diagnosis of Sprengel’s deformity with a possible associated Klippel-Feil anomaly.
Figure 1. Clinical posterior photograph: short neck, low hairline and bilateral Sprengel’s deformity.
Subsequent radiographs and an ultrasound of both shoulders and scapulae and a close-up X-ray of the left shoulder revealed a fusion of costa 3 and 4. For further evaluation of the cervical spine we made a CT scan which showed a partial fusion of the vertebral corpus C5-C7 on the left and corpus Th2-Th3, Th5-Th6, a fork rib of the 4th rib on the right side (figure 2) and a different morphology of costa 7 on the right. Also seen was a bilateral Sprengel’s deformity; left grade 3 with os omovertebrale, right grade 2 (table 1), articulating with the spinous process C7 (figure 3). As a result of these findings the parents were informed about the diagnoses and the patient will be monitored by a paediatric orthopaedic surgeon until adulthood. Physiotherapy was continued with the aim of maintaining shoulder function. Clinical genetic research revealed no known associated gene mutations, but did show a sequence change in the GDF6 gene with unknown clinical consequences.
Figure 2. 3D reconstruction of CT thorax, cervical spine, shoulders.
Figure 3. Os omovertebrale right, grade 2 articulating with C7 processus spinosus, bilateral Sprengel’s deformity.
Sprengel’s deformity In 1863, Eulenburg was the first to describe the shoulder abnormality which later became known as Sprengel's deformity. The Sprengel’s deformity is a congenital shoulder anomaly in which the scapula does not sufficiently descent during intra-uterine development and is underdeveloped. The scapula is two to ten centimetres higher than normal, which leads to functional limitations due to the resulting peri-scapular muscle atrophy. The Cavendish classification is used to describe the clinical findings of the scapula abnormalities (table 1). In 20 to 50% an omovertebral bone is present. This is a mineralized connective tissue strand between the scapula and the spine, typically at the level of C4-C7.2,3,7 In addition to the scapula abnormalities, changes in the position of the clavicle, vertebrae and rib anomalies and muscular hypoplasia or atrophy of the shoulder girdle also can occur. The functional impairment in Sprengel’s deformity can be progressive and in case of severe functional impairment, surgery may be indicated. In literature several procedures are mentioned; the Schrock, Green, Wilkinson and Mears procedure and the most commonly performed procedure; the (modified) Woodward procedure. There is no consensus on surgical procedure type, because it’s impossible to predict the clinical outcome after surgery due to the wide variety of disease presentation (including muscular malformations and soft tissue contractures).8 If the angle of abduction and anteflexion is enough to function in daily life, a conservative treatment, often with physical therapy, to maintain range of motion and muscle strength is preferred. Because the functional impairments in Spengel’s deformity can be progressive, it is important keep monitoring them in a paediatric orthopaedic specialized centre, also in patients with initially mild abnormalities. Because the Sprengel’s deformity is associated with other conditions, including congenital scoliosis (35-55%), kidney disease and the KFS (6-30%), all patients should be broadly examined and followed for associated abnormalities of the spine and other organ systems.2,3,4
Klippel-Feil Syndrome In 1912, Maurice Klippel and Andre Feil were the first to describe the classical triad caused by an abnormal segmentation or congenital fusion of cervical vertebrae.6,9 Klippel-Feil Syndrome (KFS) occurs in 1 in 41,000 live births, equally distributed across both sexes.10 Since 1912, the list of symptoms has been expanded, with mainly anatomical and neurological features. Described anatomical features are a congenital scoliosis (> 50%), Sprengel’s deformity (20-30%), cervical ribs (12-15%), occipitalization of the atlas and other rib abnormalities (33%).6,9 As a result of these skeletal anomalies, there are often abnormal biomechanics, such as hyper- or hypomobility and instability, with accompanying neurological symptoms.6 Organ systems that are embryologically simultaneously formed with the cervical spine are the inner ear, heart and kidneys.9 Abnormalities in these organ systems are also associated with the KFS, such as congenital cardiovascular abnormalities, hearing impairment/deafness (30%) and urogenital abnormalities (25-35%).9,10 Due to the many possible abnormalities associated with the KFS, a multidisciplinary assessment is necessary and the treating physician should be aware of the rare occurrence of gastrointestinal, respiratory and dermatological disorders.9 The exact genetic aetiology and the cause of the great heterogeneity of the KFS is still unknown. Research shows a heterogeneous inheritance pattern, including autosomal dominant, autosomal recessive and de novo mutations.11 Mutations in genes (GDF6, GDF3 and the MEOX1 gene), involved in regulating growth and differentiation of bone and cartilage, are associated with the KFS.5,10
Conclusion Klippel-Feil syndrome and Sprengel’s deformity are rare congenital disorders with an unknown aetiology. Due to the varying severity and extent of the abnormalities, a wide variety of symptoms is possible. However, the clinical presentation often directs the diagnosis. The case we present had already undergone an extensive clinical and diagnostic evaluation. With this report we hope to create increased awareness of these anomalies and decrease the delay in diagnosis. Disclosure statement None of the authors have anything to disclose.
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