Sprengel's deformity

Abstract

The features of Sprengel's deformity, also known as congenital high scapula, include abnormal positioning and dysplasia of the affected scapula, with a possible omovertebral connection or atrophy of the surrounding muscles. This case primarily aims to present the CT scan findings of a 19-year-old male with Sprengel deformity. Imaging enables the definitive diagnosis of this congenital malformation, and allows for the detection of associated anomalies, particularly the presence of the omovertebral bone, thereby facilitating appropriate management.

Introduction

Sprengel's deformity, also known as congenital high scapula or undescended scapula, first described by Eulenberg in 1863, is a rare congenital condition of unknown etiology, characterized by a failure of the scapula to migrate caudally between the 9th and 12th weeks of embryonic development. The diagnosis is typically made at an early age based on dysmorphic features or functional signs and is confirmed through imaging to ensure optimal therapeutic management. This condition is frequently associated with underdevelopment or atrophy of the surrounding muscles, resulting in a misshapen shoulder and limited range of motion [1,2].

Case report

We present the case of a 19-year-old male presented with a deformity of the right shoulder. The right scapula was found to be raised and fixed medially on physical examination. There was partially restricted movement of the shoulder joint. The patient had not previously undergone shoulder X-rays; 3 dimensional computed tomography (3D CT) examination was requested right away, which revealed abnormality, anterior curving of the supraspinous portion of the raised right scapula (Fig. 1). The horizontal and vertical lengths were almost the same in both scapulas. There was no omovertebral bone.

Fig. 1.

(A, B, C) axial sections, (D, E) and 3D reconstruction chest CT scan, (A) shows increased horizontal/vertical length of the right scapula. There is no omovertebral bony connection.

The patient was referred to the orthopedic department for further surgical management, which consists of resecting the protruding portion of the scapula and translating it downward. This procedure aims to correct the elevation and improve both the aesthetic appearance and functional range of shoulder movement in our patient.

Discussion

Sprengel's deformity first described by Eulenberg in 1863, Sprengel described 4 cases in 1891 and lent his name to the condition [2]. Its pathophysiology remains unknown, but it is attributed to an interruption in the caudal migration of the scapula during embryonic development. Typically, the scapula is positioned between the second and seventh-eighth thoracic vertebrae along the posterior thoracic wall. Around 5 weeks of gestation, the scapula begins to differentiate near the lower cervical vertebrae. If it fails to migrate to its normal thoracic location by 9 to 12 weeks of fetal development, it results in an anomaly [[3], [4], [5]].

Sprengel's deformity is characterized by abnormal positioning and dysplasia of the affected scapula, often accompanied by an omovertebral connection, wich is observed in 16% to 55% of cases [5]. It can form a bony, fibrous, or cartilaginous connexion between the superior angle of the scapula to the cervical or dorsal spine [6,7], but usually from the 4th to 7th cervical vertebrae [2].

It is more common in females than in males, sex ratio is 1:3 [2,8] and may present from a young age with thoracic deformity, asymmetry, or limited shoulder abduction [3], and occasionally localized pain [10].

Congenital scapular elevation is most often associated with various malformations, which can include rib anomalies such as aplasia, hypoplasia, bifidity, or supernumerary ribs, as observed in our first case. It may also involve clavicular malformations and, more notably, vertebral anomalies such as Klippel-Feil syndrome, hemivertebrae, scoliosis, and spina bifida, as seen in our second case. Additionally, it can be linked to extraosseous malformations, including diastematomyelia, cervical muscle hypoplasia, torticollis, cleft palate, and renal anomalies [[5], [9], [10]].

Diagnosis is initially made through standard radiography, which reveals a high-positioned scapula and allows for radiological classification using the Rigault and Pouliquen system into 3 degrees: mild elevation (Grade I), moderate elevation (Grade II), or severe elevation (Grade III). The omovertebral bone can be challenging to identify on X-rays, so a CT scan with multiplanar reconstructions is used to confirm the diagnosis. This imaging technique helps to locate and measure the omovertebral bone, assess the scapula's position, evaluate the extent of the deformity, and identify any associated bony anomalies . MRI can be useful for detecting fibrous or cartilaginous bridges and for identifying associated medullary anomalies [1,[10], [11], [12].

The complications of this condition are primarily aesthetic rather than functional, often involving thoracic deformity, the development of a posterior thoracic mass, shoulder asymmetry, and occasionally limited active shoulder abduction [10].

Differential diagnosis includes neonatal brachial plexus palsy, winged scapula due to serratus anterior paralysis, high scapula from facioscapulohumeral muscular dystrophy, scapulopelvic dysostosis, or Klippel-Feil syndrome [10].

Conclusions

Congenital scapular elevation, or Sprengel's deformity, is a rare congenital malformation characterized by the abnormal elevation of the scapula. It is frequently associated with multiple other anomalies, with the most common being the omovertebral bone. The diagnosis is primarily clinical, based on the observation of scapular elevation and, in some cases, restricted shoulder abduction. Confirmation of the diagnosis and identification of associated malformations are achieved through imaging studies, which are crucial for ensuring appropriate management and treatment.

Author contributions

All authors contributed to this work. All authors have read and approved the final version of the manuscript.

Patient consent

Written informed consent for publication was obtained from patient.