The Rare Sprengel Deformity: Our Experience with Three Cases

Abstract

Sprengel shoulder is a rare congenital deformity of one or both scapulae that is usually detected at birth. It occurs due to failure of the scapula to descend during intrauterine development and its cause is still unknown. Although the deformity appears randomly most of the time, familial cases have been reported. Sprengel shoulder is often associated with Klippel–Feil syndrome and other congenital skeletal deformities. Anteroposterior X-ray imaging can accurately diagnose Sprengel deformity. However, computed tomography and magnetic resonance scans with three-dimensional reconstruction are nowadays used in everyday practice in order to diagnose concomitant abnormalities, study in detail the anatomy of the affected shoulder(s), and plan appropriate management. We present here our imaging experience from three pediatric cases with Sprengel shoulder and take the opportunity to discuss this rare entity, which is, nevertheless, the commonest congenital defect of the scapula.

One Too Many Bones

“…Sprengel deformity is a congenital elevation of the scapula. 1,2,3,4,5 Although rare, it is the most common congenital malformation of the shoulder. 1,3,4,5 It is unilateral in approximately 90% of the cases3 with a predilection for left side 1,4 and it has a male predominance (3:1).…”

“…1,2,3,4,5 Although rare, it is the most common congenital malformation of the shoulder. 1,3,4,5 It is unilateral in approximately 90% of the cases3 with a predilection for left side 1,4 and it has a male predominance (3:1). 1,3 It occurs as a result of failure of the scapula to descend to its correct position during intrauterine development1-5 being characterized by abnormal position of scapula and dysplasia with muscular atrophy 1,3 ; its cause is still unknown.…”

“…1,3 It occurs as a result of failure of the scapula to descend to its correct position during intrauterine development1-5 being characterized by abnormal position of scapula and dysplasia with muscular atrophy 1,3 ; its cause is still unknown. 3,4 Even though the deformity appears randomly, familial cases have been reported. 1,4 It can present as a single entity or associated with other syndromes, the most common being Klippel-Feil Syndrome 1,3,5 -an anomaly characterized by congenital fusion of a variable number of cervical vertebraepresent in about 19-27% of patients with Sprengel's deformity.…”

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

“…What’s more, complications like regional muscle hypoplasia or atrophy can occur, leading to limited shoulder movement. Although several familial cases of CM-II or Sprengel’s deformity have been reported, both defects are widely considered to be sporadic, due to the unknown etiology and undetermined causal genes [ 7 – 10 ].…”

Deformidad de Sprengel

“…La escápula es hipoplásica, más alta de lo normal en el tórax o en el cuello; el ángulo inferior está rotado internamente y la superficie glenoidea se dirige hacia abajo. 2 Las manifestaciones clínicas varían desde imperceptible a deformidad evidente; puede asociarse a defectos de segmentación vertebral cervical, espina bífida, escoliosis (la más frecuente), atrofia o hipoplasia de los músculos de la cintura escapular y malformaciones cardiacas o renales. Entre la escápula y la columna puede haber una Figura 1.…”