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Excerpt from Sprengel DeformitySynonyms, Key Words, and Related Terms: Sprengel's deformity, Sprengel anomaly, Sprengel's anomaly, congenital high scapula, congenital elevation of the scapula, failure of scapular descent, Sprengel's shoulder, Sprengel shoulder, hochgradige dislocation der scapula, high-grade dislocation of the scapula, hypoplastic scapula, elevated scapula, absent ribs, fused ribs, chest wall asymmetry, Klippel-Feil syndrome, cervical ribs, congenital scoliosis, cervical spina bifida, diastematomyelia, omovertebral bone, high shoulder, shoulder deformity, Greig syndrome, Greig cephalopolysyndactyly syndrome, GCPS, Poland syndrome, Poland anomaly, VATER association, velocardiofacial / velo-cardio-facial syndrome, VCFS, DiGeorge syndrome, floating harbor syndrome, floating-harbor syndrome, Goldenhar syndrome, oculo-auriculo-vertebral / oculoauriculovertebral syndrome, OAV syndrome, X-linked dominant hydrocephalus, skeletal anomalies, mental disturbance syndrome Please click here to view the full topic text: Sprengel DeformityEulenberg first described what later became known as Sprengel deformity in 1863,1 and, 2 decades later, Willet and Walsham reported 2 cases with anatomic descriptions of this clinical entity.2 Sprengel then described 4 cases of upward displacement of the scapula in 1891.3 Multiple case reports and surgical techniques followed in the literature for Sprengel deformity, also known as congenital elevation of the scapula. History of the ProcedureIn 1863, Eulenberg described Sprengel deformity as "hochgradige dislocation der scapula" (ie, a high-grade dislocation of the scapula).1 In 1883, Willet and Walsham were the first to describe the omovertebral bone, as well as the first to describe the excision of the bone, with good results.2 Sprengel described 4 cases of the condition in 1891.3 Kolliker, who also described 4 cases in 1891, gave the condition its eponym, Sprengel deformity.4 ProblemSprengel deformity is a complex anomaly that is associated with malposition and dysplasia of the scapula.5, 6, 7, 8 This condition also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. FrequencySprengel deformity is the most common congenital malformation of the shoulder girdle.9 The male-to-female ratio is 3:1. EtiologyGenetics The condition is sporadic. Rarely, it may run in families (autosomal dominant pattern of inheritance).10, 11 Embryology The scapula is a cervical appendage that normally differentiates opposite the fourth, fifth, and sixth cervical vertebrae at about 5 weeks' gestation.12 This structure normally descends to the thorax by the end of the third month of intrauterine life; any impediment to its descent results in a hypoplastic, elevated scapula, known as the Sprengel deformity. Congenital elevation of the scapula is caused by an interruption in the normal caudad migration of the scapula. This produces both cosmetic and functional impairment and probably occurs between the 9th and 12th week of gestation. An arrest in the development of bone, cartilage, and muscle also occurs. The trapezius, rhomboid, or levator scapulae muscle may be absent, hypoplastic, or contain multiple fibrous adhesions. The serratus anterior muscle may be weak, leading to winging of the scapula. Other muscles, such as the pectoralis major, latissimus dorsi, or the sternocleidomastoid, may be hypoplastic and similarly involved. Associated malformations are almost always present with a Sprengel deformity. These can include anomalies in the cervicothoracic vertebrae or the thoracic rib cage. The most common anomalies are absent or fused ribs, chest-wall asymmetry, Klippel-Feil syndrome, cervical ribs, congenital scoliosis, and cervical spina bifida. When scoliosis is present, the most common curves are in the cervicothoracic or upper thoracic region. A relationship between a Sprengel deformity and diastematomyelia has also been shown. Another anomaly that is seen in approximately one third of patients with a Sprengel deformity is the omovertebral bone. This is a rhomboid- or trapezoid-shaped structure of cartilage or bone that usually lies in a strong fascial sheath, which extends from the superomedial border of the scapula to the spinous processes, lamina, or transverse processes of the cervical spine, most commonly the fourth to seventh cervical vertebrae. A well-developed joint can form between the scapula and the omovertebral bone; this bone can also be a solid osseous bridge. The omovertebral bone is best visualized on a lateral or oblique radiograph of the cervical spine. PathophysiologyDespite the works of Engel (Bleb theory),13 Oxnard,14 and Ogden et al,7, 15 no satisfactory explanation exists regarding the pathogenesis of the Sprengel deformity. The gross pathology can be described as follows:
ClinicalThe hallmarks of the Sprengel deformity are shoulder asymmetry and restriction of shoulder abduction. Clinically, the affected scapula is usually elevated 2-10 cm and is adducted, and its inferior pole is medially rotated. Due to this rotation, the glenoid faces inferiorly. A prominence in the suprascapular region is characteristic due to the upwardly rotated superomedial angle of the scapula, which causes the ipsilateral side of the neck to appear fuller and its normal contour to be lost. The scapula is hypoplastic, and the length of the vertebral border is decreased. Occasionally, some anterior bending of the supraspinous portion is present. Passive movement of the glenohumeral joint, including abduction and external and internal rotation, may be normal. However, scapulothoracic movements may be severely limited. In 40% of patients with a Sprengel deformity, combined abduction is limited to less than 100º. The omovertebral bone may also limit abduction by affecting scapular mobility and can also limit neck movement if this bone is attached high in the cervical spine. Other causes of limited abduction include abnormal and weakened scapular muscles. The left side is more commonly affected than the right side. The condition may sometimes be bilateral, in which case, although it is cosmetically much more acceptable, functionally, it is more disabling. Problems that may be associated with this condition include syndromes such as the following:
These syndromes are extremely rare, with the possible exception of the Klippel-Feil syndrome. Based on the severity of the condition, a Sprengel deformity can be classified as follows (Cavendish grades)8:
This classification, however, is difficult to apply in bilateral cases (see Image 1). Please click here to view the full topic text: Sprengel Deformity |
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