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SHORT CASE
Current Orthopaedics (2001) 15, 468 doi:10.1054/cuor.2001.0230, available online at http://www.idealibrary.com on
SHORT CASE QUESTION What condition is shown in these AP and lateral neck radiographs (Fig. 1A and B) and write a brief account of the salient clinical and radiological features?
ANSWER Klippel ^Feil Syndrome Any congenital failure of segmentation a¡ecting the cervical spine, or cervico-thoracic junction, satis¢es the term Klippel^Feil Syndrome and that is what Klippel and Feil described in 1912.The triad of short neck, low hairline and restricted neck movement was not described until 8 years later by Bertolotti. Winter1 from Minneapolis with his great interest in congenital spine problems has found descriptions going back to the early 18th century. Reviews of substantial numbers of patient such as Hensinger’s in 19742 describe a constellation of associated anomalies. More than half had a scoliosis and a third had renal anomalies. Forty per cent had a Sprengel’s shoulder and 30% impairment of hearing. Eighteen per cent had synkinesia and 14% congenital heart disease. Interestingly, less than half of the 50 patients studied had the classical clinical triad of ¢ndings. The scoliosis in Klippel ^Feil Syndrome is one of two typesFa congenital scoliosis locally in the cervical or cervico-thoracic regions (as in this case) or an idiopathic type curve below it. Sprengel’s shoulder refers to a developmentally high scapula and this occurs because the scapula develops in the mesenchyme on each side of the neck and then because of di¡erential growth descends to its position in the upper posterior chest wall.There is sometimes an omovertebral bone present.
Figure 1
Cervical instability is uncommon in children, with a prevalence rate of about 5%, but what appears to matter is the type of congenital3 anomaly and the added e¡ect of degenerative change with age (the risk of neurological dysfunction increases with age). Interestingly, those who have a mass fusion of the cervical and upper thoracic vertebrae (so-called type I) rarely develop neurological problems or signs of instability whereas those with fusion of only one or two interspaces (type II) particularly in the upper cervical spine (as in this case) are much more prone. By, contrast those with fusion, of one or two levels below C3 seem to be safe and contact sports are not contra-indicated. By contrast, and despite the type I mass fusion, participation in contact sports is not recommended. While one-third of the renal abnormalities could be classi¢ed as minor, two-thirds have major abnormalities, the majority with an absent kidney. The most common cardiovascular abnormality is an inter-ventricular septal defect. All types of hearing loss (conductive, sensorineural and mixed) contribute to deafness. Synkinesia (involuntary paired movements of the hands with the patient being unable to move one hand without producing similar movement in the other) is a feature of very young children with a tendency to improve with age.
REFERENCES 1. Winter R B. Cervical spine deformity in: Congenital Deformities of the Spine.Thieme-Stratton Inc,1983; 3301^302. 2. Hensinger R, Lange J, MacEwen G D. Klippel^Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg1974; 56A:1246^1253. 3. Torg J S, Pavlov H, Glasgow S G. Radiographic evaluation of athletic injuries to the cervical spine. In: Camins M B, O’Leary P F (eds), Disorders of the Cervical Spine. Baltimore: Williams & Wilkins,1992; 139.
SHORT CASE QUESTION What condition is shown in these AP and lateral neck radiographs (Fig. 1A and B) and write a brief account of the salient clinical and radiological features?
ANSWER Klippel ^Feil Syndrome Any congenital failure of segmentation a¡ecting the cervical spine, or cervico-thoracic junction, satis¢es the term Klippel^Feil Syndrome and that is what Klippel and Feil described in 1912.The triad of short neck, low hairline and restricted neck movement was not described until 8 years later by Bertolotti. Winter1 from Minneapolis with his great interest in congenital spine problems has found descriptions going back to the early 18th century. Reviews of substantial numbers of patient such as Hensinger’s in 19742 describe a constellation of associated anomalies. More than half had a scoliosis and a third had renal anomalies. Forty per cent had a Sprengel’s shoulder and 30% impairment of hearing. Eighteen per cent had synkinesia and 14% congenital heart disease. Interestingly, less than half of the 50 patients studied had the classical clinical triad of ¢ndings. The scoliosis in Klippel ^Feil Syndrome is one of two typesFa congenital scoliosis locally in the cervical or cervico-thoracic regions (as in this case) or an idiopathic type curve below it. Sprengel’s shoulder refers to a developmentally high scapula and this occurs because the scapula develops in the mesenchyme on each side of the neck and then because of di¡erential growth descends to its position in the upper posterior chest wall.There is sometimes an omovertebral bone present.
Figure 1
Cervical instability is uncommon in children, with a prevalence rate of about 5%, but what appears to matter is the type of congenital3 anomaly and the added e¡ect of degenerative change with age (the risk of neurological dysfunction increases with age). Interestingly, those who have a mass fusion of the cervical and upper thoracic vertebrae (so-called type I) rarely develop neurological problems or signs of instability whereas those with fusion of only one or two interspaces (type II) particularly in the upper cervical spine (as in this case) are much more prone. By, contrast those with fusion, of one or two levels below C3 seem to be safe and contact sports are not contra-indicated. By contrast, and despite the type I mass fusion, participation in contact sports is not recommended. While one-third of the renal abnormalities could be classi¢ed as minor, two-thirds have major abnormalities, the majority with an absent kidney. The most common cardiovascular abnormality is an inter-ventricular septal defect. All types of hearing loss (conductive, sensorineural and mixed) contribute to deafness. Synkinesia (involuntary paired movements of the hands with the patient being unable to move one hand without producing similar movement in the other) is a feature of very young children with a tendency to improve with age.
REFERENCES 1. Winter R B. Cervical spine deformity in: Congenital Deformities of the Spine.Thieme-Stratton Inc,1983; 3301^302. 2. Hensinger R, Lange J, MacEwen G D. Klippel^Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg1974; 56A:1246^1253. 3. Torg J S, Pavlov H, Glasgow S G. Radiographic evaluation of athletic injuries to the cervical spine. In: Camins M B, O’Leary P F (eds), Disorders of the Cervical Spine. Baltimore: Williams & Wilkins,1992; 139.