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Sprengel's Deformity

Sprengel Deformity

Sprengel's deformity is a rare structural malformation of the scapula that arises due to improper development during intrauterine life. An abnormally elevated scapula at rest, either unilaterally or bilaterally, is the principal manifestation, but several musculoskeletal defects may be concomitantly present. A proper clinical examination can diagnose the condition at birth or during childhood, and imaging studies are used to confirm the diagnosis and decide on optimal treatment.


Presentation

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].

Inguinal Hernia
  • Extraskeletal defects are common in children suffering from this condition, most common being a cleft palate, strabismus, renal changes, iniencephaly, and inguinal hernia.[symptoma.com]
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]
Suggestibility
  • The co-occurrence of these malformations suggests an unknown shared etiology. Therefore, we reviewed the medical records of eight children presenting with both malformations and performed a review of the literature.[ncbi.nlm.nih.gov]
  • Clinical and computed tomography features suggested a caudal cervical instability and myelopathy due to a cervicoscapular malformation resembling the human Klippel-Feil Syndrome with Sprengel Deformity, a rare complex congenital disorder.[ncbi.nlm.nih.gov]
  • There was no history suggestive of a neurological deficit, breathlessness or limitation of the shoulder joint associated with it. On examination, her vital parameters were within normal limits.[jpgmonline.com]
  • Quick Start Forum Video Tutorial Protect anonymity We strongly suggest that members do not include their email addresses. Once that is published , your email address is available to anyone on the internet , including hackers.[spine-health.com]
  • Sprengel's deformity is felt to be an arrest of the caudal descent of the scapula which normally occurs between the ninth and twelfth weeks gestation.3 Heredity may be a factor in at least some cases as suggested by Engel.4 Several authors have suggested[healio.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]

Workup

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].

Treatment

  • Thus, the surgical treatment of adults patients with Sprengel's deformity can produce good surgical results.[ncbi.nlm.nih.gov]
  • Treatment includes surgery in early childhood and physical therapy.[en.wikipedia.org]
  • INTRODUCTION: Multiple surgical options are available in the treatment of severe Sprengel's deformities and vary according to the selected muscle disinsertion site.[ncbi.nlm.nih.gov]
  • Treatment: none generally needed. Grade 2: gelnohumeral joints leel, prominence in the neck visible when dressed. Treatment: consider resection of scapular prominence and omovertebral bar mainly for cosmesis.[eorif.com]
  • A proper clinical examination can diagnose the condition at birth or during childhood, and imaging studies are used to confirm the diagnosis and decide on optimal treatment.[symptoma.com]

Prognosis

  • […] of success Type of procedure used: Relocation surgeries have better outcomes Associated anomalies: Other underlying medical conditions that usually accompany Sprengel Deformity, such as Klippel-Feil syndrome, will have an impact on the final prognosis[dovemed.com]
  • Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered. [1] Last updated: 1/6/2016 The long-term outlook ( prognosis ) for people with Sprengel deformity depends on several[rarediseases.info.nih.gov]
  • Treatment and prognosis Surgery is performed to improve cosmetic and functional disability. It is generally considered for patients between 3 and 8 years of age who have moderate to severe disability (or a Cavendish score of 3-4) 1 .[radiopaedia.org]
  • Complications of surgery rarely include winging of scapula and brachial plexus injury Prognosis Excellent with treatment Sprengel's Deformity. Blue arrows point to elevation and medial angulation of both scapulae.[learningradiology.com]
  • Surgical relocation of the scapula may lead to scissoring of the brachial plexus and / or subclavian artery between the clavicle and first rib, therefore must morcelise the middle 1/3 of the clavicle prior to commencing the posterior surgery Prognosis[orthopaedicsone.com]

Etiology

  • Although the etiology of both spinal dysraphism and Sprengel's deformity remains unclear, all deformities of the spine, ribs, and shoulder might result from a common genetic defect affecting somitogenesis.[ncbi.nlm.nih.gov]
  • ETIOLOGY: ETIOLOGY This may be due to failure of scapular descent from the cervical spine.The high scapula may be attached to the spine by a tough fibrous band or a cartilaginous bar(the omovertebral bar).[authorstream.com]
  • Currently, the etiology is unknown but has been postulated to involve neural crest defects (Matsuda, 2005) or oligohydramnios (Horwitz, 1908).[posna.org]
  • […] synonyms: Sprengel’s Deformity ICD-9 755.52 (congenital elevation of the scapula; Sprengel's deformity) Sprengel’s Deformity Etiology / Epidemiology / Natural History Failure of scapular descent during embryologic development.[eorif.com]
  • Although the etiology of both spinal dysraphism and Sprengel’s deformity remains unclear, all deformities of the spine, ribs, and shoulder might result from a common genetic defect affecting somitogenesis.[link.springer.com]

Epidemiology

  • […] synonyms: Sprengel’s Deformity ICD-9 755.52 (congenital elevation of the scapula; Sprengel's deformity) Sprengel’s Deformity Etiology / Epidemiology / Natural History Failure of scapular descent during embryologic development.[eorif.com]
  • Epidemiology: The true incidence is unknown and, although the condition is rare, it is the most common congenital shoulder girdle deformity. It may be associated with cervical spine and renal anomalies.[posna.org]
  • Synonyms: Undescended scapula; Congenital high scapula Epidemiology Prevalence More common in girls than in boys, with a ratio of 3:1 Risk Factors Myelomeningocele Congenital cervical fusion Genetics It is almost always a sporadic condition.[orthopaedicclinic.com.sg]
  • Epidemiology 16:216–219 CrossRef PubMed Google Scholar 22. Nagib MG, Maxwell RE, Chou SN (1985) Klippel–Feil syndrome in children: clinical features and management. Childs Nerv Syst 1:255–263 CrossRef PubMed Google Scholar 23.[link.springer.com]
  • Epidemiology Sprengel’s deformity is the most common congenital malformation of the shoulder girdle 9 . It is more common in males, with a male to female ratio of 3:1 4 .[ispub.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Despite the work of Engel (bleb theory), Oxnard, and Ogden et al, a satisfactory explanation for the pathogenesis of the Sprengel deformity is yet to be derived. [3, 12, 13, 14] Grossly, the scapula is dysplastic and is located higher[emedicine.com]

Prevention

  • Older children may require claivicular osteotomy to prevent iatrogenic nerve injury Sprengel’s Deformity Associated Deformities Klippel-Feil syndrome Scoliosis Torticolllis Facial asymmentry Hemivertebrae Rib synostosis Clavicular abnormalities Renal[eorif.com]
  • . - 3 wks of postoperative immobilization are required; - osteotomy of clavicle may be required to prevent compression of N/V structures against first rib; - postoperative improvement in shoulder abduction is maintained, although some loss of scapular[wheelessonline.com]
  • Consideration for clavicular osteotomy and/or intra-operative neuro-monitoring should be given in older patients and patients with more severe deformity to prevent postoperative brachial plexus injury.[posna.org]
  • […] scapula - Scapular is subsequently rotated and translated caudally - detached muscle origins are then sutured to more inferior vertebral spinous processes - 3 weeks of post-operative immobilisation are required - osteotomy of clavicle may be required to prevent[henryspink.org]

References

Article

  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.

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Last updated: 2018-06-22 04:39