Despite being the most common congenital anomaly of the scapula, Sprengel's deformity is rarely encountered in clinical practice [1]. As the scapula fails to descend to its appropriate anatomical position during embryonic life (specifically between the 9th and 12th week of development), it remains abnormally elevated, and is prominent from birth or early childhood, depending on the severity of the defect [1] [2] [3]. Apart from the obviously misaligned scapula compared to the other shoulder girdle (although bilateral Sprengel's deformity has been described in the literature in about 10% of cases), scoliosis, torticollis, asymmetric distortion of the skull (termed caput obstiosum) and restricted motion, particularly abduction of the shoulder joint, are other notable features [2] [3] [4]. For still undisclosed reasons, the left scapula is more commonly affected [1]. One of the hallmarks of this congenital anomaly is the presence of an omovertebral bone, a junction between the scapula and the adjacent spinous processes, and is seen in 16-55% of cases [5] [6]. In addition, a myriad of skeletal defects might be seen in Sprengel's deformity, including hypoplasia of cervical muscles, femur and tibial shortening, diastematomyelia, as well as hip and radial head dislocations [2] [4] [7]. Furthermore, Klippel-Feil Syndrome (KFS), spina bifida, and several costal, clavicular and vertebral disorders have been associated with Sprengel's deformity [2] [7]. Extraskeletal defects are common in children suffering from this condition, most common being a cleft palate, strabismus, renal changes, iniencephaly, and inguinal hernia [2] [7]. Many reports have revealed that Sprengel's deformity is more commonly described in women, with the male-to-female ratio reaching almost 3:1 [1] [3] [4] [6], but other studies show an equal distribution [2].

• Recurrent Respiratory Infections

  There was no past history of recurrent respiratory infections. There was no similar history in the family. Her elder two siblings, a boy of 16 years and a girl of 14 years of age were developmentally and physically normal for their age. [medresearch.in]

• Respiratory Insufficiency

  There will be severe thoracic restriction which leads to neonatal respiratory insufficiency and a very high mortality rate. Survivors require aggressive respiratory support and often go on to have recurrent chest infections in later life. [medresearch.in]

• Hyperpigmentation

  Our patient also had hyperpigmentation along the lines of Blaschko, which has never been previously reported with Sprengel's deformity. Sprengel's may have an association with cutaneous mosacism syndrome. [ncbi.nlm.nih.gov]

• Loss of Initiative

  Significant loss of initial correction occurred in 14 out of 36 cases of proximal resection and 9 of 41 patients with scapular relocation. In the original article published by Joe Woodward, the results were not entirely satisfactory. [ijoonline.com]

• Limb Weakness

  We report a case of a 14-year-old girl with bilateral Sprengel's deformity presenting with a progressive bilateral lower limb weakness and gait abnormality. [ncbi.nlm.nih.gov]

A comprehensive clinical and imaging workup is necessary to make the diagnosis of Sprengel's deformity. A simple physical examination of the shoulder girdle and the scapula is perhaps the vital step in making a presumptive diagnosis, but milder deformities can be missed by the physician. For this reason, Sprengel's deformity is classified into four grades on the basis of the severity [2] [6]:

• Grade I - The deformity of the scapula is very mild, it cannot be observed without close inspection and palpation, and the shoulders are at an equal level.
• Grade II - A visible lump in the neck is seen even when the patient is dressed, with a minor difference in the shoulder levels.
• Grade III - Significant elevation of the shoulder on the side of scapular elevation (between 2-5 cm).
• Grade IV - The superior pole of the scapula is in close proximity to the occipital bone of the endocranium.

When sufficient clinical suspicion is raised based on clinical findings, imaging studies of the thorax are needed to confirm the diagnosis. Plain radiography is a useful initial method to assess more severe cases (eg. in whom omovertebral bones are present) and visualize an abnormally elevated scapula, but the role of computed tomography (CT), both two-dimensional (2D) and 3D views, and magnetic resonance imaging (MRI) are superior to X-rays [1] [2] [3] [6]. CT and MRI are beneficial for their roles in determining the exact location of the scapula, also whether other musculoskeletal deformities are present, which has important implications for further treatment [1] [3].

1. Bindoudi A, Kariki EP, Vasiliadis K, Tsitouridis I. The Rare Sprengel Deformity: Our Experience with Three Cases. J Clin Imaging Sci. 2014;4:55.
2. Kadavkolan AS, Bhatia DN, DasGupta B, Bhosale PB. Sprengel’s deformity of the shoulder: Current perspectives in management. Int J Shoulder Surg. 2011;5(1):1-8.
3. Dilli A, Ayaz UY, Damar Ç, Ersan Ö, Hekimoglu B. Sprengel Deformity: Magnetic Resonance Imaging Findings in Two Pediatric Cases. J Clin Imaging Sci. 2011;1:13.
4. Mittal N, Majumdar R, Chauhan S, Acharjya M. Sprengel’s deformity: association with musculoskeletal dysfunctions and tethered cord syndrome. BMJ Case Rep. 2013;2013:bcr2013009182.
5. Gonen E, Simsek U, Solak S, Bektaser B, Ates Y, Aydin E. Long-Term Results of Modified Green Method in Sprengel’s Deformity. J Child Orthop. 2010;4(4):309-314.
6. Cavendish ME. Congenital elevation of the scapula. J Bone Joint Surg. 1972;54B(3):395–408.
7. Guillaume R, Nectoux E, Bigot J, et al. Congenital high scapula (Sprengel's deformity): four cases. Diagn Interv Imaging. 2012;93(11):878-883.