Sprengel's Shoulder Research Articles

Sprengel shoulder: a case report

Sprengel shoulder is a rare deformity of shoulder girdle of unknown etiology. Eulenburg in 1863, had first reported this rare congenital anomaly of the scapula. Sprengel described it in 1891, and hence this deformity got its’ name. Autosomal dominant inheritance has been reported for this abnormality. Abnormal descent of the scapula during 9th to 12th weeks of gestation leads to this congenital anomaly. It is a cosmetic deformity. Elevation of scapula is the characteristic feature. A lump at the back of the neck with restricted movements of the shoulder and or arm are the presenting finding. The affected scapula is rotated on its sagittal axis. The superior and the vertebral border comes nearer to the medial line and to the axilla respectively. Severity of this deformity varies widely being almost invisible when covered with clothes to the shoulder being elevated over 5 centimeters along with the presence of webbing of neck. This congenital deformity can be associated with other musculoskeletal abnormalities such as Klippel-Feil syndrome, scoliosis and rib anomalies. In 30% of cases of Sprengel shoulder, an omovertebral cartilaginous, fibrous or bony bar connecting superomedial border of scapula to spine, transverse process or lamina of cervical vertebra can be seen and this causes restriction of movements around the shoulder girdle. Surgical management is considered in severe cases. Surgical management involves excision of the protruding portion of scapula and inferior translation of scapula. This enhances shoulder functions as well as general appearance of the patient.

Surgical correction of Sprengel's deformity by modified Woodward procedure: outcomes in twenty eight patients.

Sprengel's deformity is a congenital failure of the descent of the scapula with main concerns regarding cosmetic deformity and restricted function of the affected shoulder. The purpose of this study was to present the results of Modified Woodward procedure in 28 patients with Sprengel's shoulder. Twenty-eight patients (9 males, 19 females) of Sprengel's shoulder treated with modified Woodward procedure from 2010 to 2016 were retrospectively studied. Clinical assessment was done using Cavendish grading and Rigault's classification for radiographic evaluation. Mean age at the time of surgery was six years and three months. Mean follow-up was 20months. We found a mean increase in abduction of 34.2° (15-50) and flexion of 20.6° (10-25), mean scapular lowering of 2.3cm (0.5-4.5cm), and a Cavendish grade I in 18 (65%), grade II in 10 (35%). Thus, we had 65% satisfactory results in terms of cosmesis and 85% with the function of the affected limb. Rigault grading improved by one grade in 16 children and by two grades in 12 children. Subjectively, all parents were satisfied with the cosmetic appearance of the achieved scapular lowering. We had one case of delayed superficial wound healing which resolved spontaneously. Modified Woodward procedure for Sprengel's shoulder deformity gives good cosmetic correction and improvement in shoulder function with minimal complications. This procedure is good for selective cases of Cavendish grade II with cosmetic concerns and all cases of Cavendish grade III and IV.

First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India

THOC6 is a newly described causal gene for an autosomal recessive intellectual disability (ID) - Beaulieu Boycott Innes syndrome (BBIS) (OMIM # 613680). It is characterized by ID with dysmorphic facies, genitourinary, cardiac anomalies, and dentition problems. Here, we report the first two siblings of BBIS from the Indian subcontinent with previously unreported skeletal anomalies such as Sprengel shoulder, calcaneo valgus deformity, radioulnar dysostosis, and overlapping toes. Whole exome sequencing (WES) identified previously reported three missense variants (p.Trp100Arg, p.Val234Leu, p.Gly275Asp) in THOC6. THOC6 is a subunit of TRanscription and EXport (TREX) complex involved in mRNA transcription, processing, and nuclear export of spliced mRNAs and has a potential role in neurodevelopment. Till date, only 12 patients with BBIS have been reported. This report reviews the phenotypic and genetic data of known BBIS cases in addition to the new phenotypic features, thereby expanding the phenotype of this rare syndrome.

Sprengel's deformity of the shoulder joint treated by Woodward operation.

Sprengel's shoulder deformity is a rare condition that happens because of the abnormal termination of the caudal migration of the scapula during the embryonic period. This retrospective clinical study included 10 consecutive children who underwent a Woodward operation to correct the Sprengel's shoulder deformity. The average preoperative Cavendish grade for cosmetic evaluation was 3.5 (range 3-4), which decreased to 1.4 (range 1-2) at the final review (statistically significant, p > 0.002, Wilcoxon signed-rank test). Cavendish grade improvement and increase in abduction had a strong positive association (r = 0.681, Spearman correlation coefficient. The results showed that both functional and cosmetic outcome had a positive correlation with Woodward procedure. More cosmetic and functional improvement was seen at the last follow-up visit especially in cases where the operation was done in the younger years. IV.

Sprengel's deformity correction by vertical scapular osteotomy ina paediatric age group: influence of rib cage abnormalities.

Vertical scapular osteotomy (VSO) is a known procedure for Sprengel's shoulder deformity. Its surgical results in the presence of rib cage anomalies largely remain unreported. The influence of simple and complex rib anomalies on shoulder abduction, Cavendish grade, and radiological Rigault's score following VSO was studied retrospectively in eight paediatric patients. The omovertebral bar effect on surgical outcome was also observed. The average age at surgery was 6.8years. Rib anomalies were found in seven patients among which four had simple (50%) and three complex rib anomalies (37.5%). At mean post-surgery follow-up of fouryears, the overall average gain in shoulder abduction was 21°. In patients having either no or simple rib anomalies (n = 5), the mean pre-operative abduction and follow-up increase was more (132°; gain 28°) compared to complex rib anomalies (110°; gain 10°). The overall average pre-operative Cavendish score changed from 2.8 to 1.5. The correction was more complete in simple or no rib anomalies. The mean preoperative Rigault score was 2.25 with only a small improvement (0.38) noted in follow-up. Two patients with omovertebral bar attained good cosmetic and functional results. The current study was at variance with the previously published studies in terms of improved shoulder abduction following VSO especially complex rib anomalies. The omovertebral bar was not an adverse prognosticating factor.

English

Seven years old male child with Klippel Feil syndrome and Sprengel shoulder was posted for Woodwards procedure in prone position. Patients with this syndrome are vulnerable to cervical spinal cord injury and are at high risk for neurological injury not only during laryngoscopy and intubation but thereafter. Paediatric patients with cervical spine instability and limited range of INTRODUCTION: KFS is usually associated with other anomalies, the spectrum of which is immense, ranging from congenital scoliosis (more than 50%), Sprengel's deformity (20- 30%) and deafness (30%) to cardiovascular (4-29%) and genitourinary (25-35%) abnormalities.(1) These patients pose anesthetic challenge when they come for surgery. The parent provided written informed consent for the authors to publish this report.

Sprengel 変形に対して V-osteotomy を施行した 2 例の報告

Sprengel 変形に対して V-osteotomy を施行した 2 例の報告

Sprengel's shoulder treated by the Woodward procedure: Analysis of factors affecting functional and cosmetic outcome

To report the functional and cosmetic results of cases with Sprengel's shoulder who underwent the Woodward procedure. Twelve children were operated at a mean age of 5.58years and reviewed at an average follow up of 31.83months. The mean preoperative Cavendish grade for cosmetic evaluation was 3.17, which decreased to 1.25 postoperatively (statistically significant, p<0.0005, Wilcoxon signed-rank test). Similarly, the range of abduction at the shoulder increased from a mean of 115.83° preoperatively to 153.33° at final review (p<0.0005). Age had a negative correlation with both functional improvement (r=-0.55, Spearman correlation coefficient) and cosmetic improvement (r=-0.11), although the latter suggested a very weak association, if any. Cavendish grade improvement and increase in abduction had a strong positive association (r=0.713). However, there was no correlation between the increase in abduction and lowering of the scapula achieved (r=0.131). The presence of an omovertebral bar did not affect the final functional outcome, nor did the presence of associated congenital anomalies. The Woodward procedure is a reliable method for obtaining uniformly predictable results in Sprengel's shoulder. The surgery should be performed at a younger age in order to optimise the functional outcome.

Outcome of Mears procedure for Sprengel’s deformity

Background:Sprengel’s shoulder is characterized by scapular maldescent and malposition, causing restriction of shoulder and cervical spine movements. It is associated with a variety of other congenital anomalies. Various surgical procedures have been described to treat this anomaly with no consensus as to the surgical procedure of choice. We report the results of the Mears procedure in the treatment of Sprengel’s shoulder.Materials and Methods:Seven children between the age group of two and six years were treated for Sprengel’s deformity, with omovertebral bar, and other congenital anomalies. The Cavendish score and Rigault radiological score were used to assess the severity of the deformity, and the position of the scapula relative to the cervical spine, respectively. The Mears procedure involved scapular osteotomy, par tial scapular excision, and release of a long head of triceps. Clavicular osteotomy was done only in two cases to decrease the risk of traction injury to the brachial plexus. Postoperatively, the patients were immobilized in a shoulder sling and range of motion exercises were started as early as possible. The patients were followed regularly at six weeks, three months and regularly at six-months interval.Results:The mean improvement in flexion and abduction was 45 ° (40 – 70 °) and 50 ° (40 – 70 °), respectively, which was the combined glenohumeral and thoracoscapular movement. The cosmetic and functional improvement by this procedure was acceptable to the patients. Minor scar hypertrophy was seen in two cases.Conclusion:The Mears procedure gives excellent cosmetic and functional results. This procedure addresses the functional aspect of the deformity and is much more acceptable to the patient and parents.

Downward Rotation of the Scapula after Wilkinson's Osteotomy for Sprengel's Shoulder

Downward Rotation of the Scapula after Wilkinson's Osteotomy for Sprengel's Shoulder

Scapular Osteotomy for Sprengel's Shoulder in Children before the Age of 5

Scapular Osteotomy for Sprengel's Shoulder in Children before the Age of 5

Prenatal ultrasonographic diagnosis of Sprengel's deformity.

Sprengel's deformity is the congenital failure of descent of the scapula. Eulenburg first described this in 1863. Sprengel described 4 cases in 1891; hence, the anomaly has been called Sprengel's deformity. Other terms for this entity are Sprengel's anomaly, Sprengel's shoulder, congenital high scapula, and undescended scapula. In this entity, varying degrees of scapula elevation and scapula hypoplasia occur. In approximately one third of cases, Sprengel's deformity is accompanied by an accessory ossicle, the omovertebral bone, which articulates between the medial border of the scapula and 1 or more of the cervical vertebrae. In the absence of an omovertebral bone, a fibrous fascial sheath extends from the superior angle of the scapula to the spinous process, the lamina, or the transverse process of 1 or more lower cervical vertebrae. This fixation accounts for the medial position and elevation of the scapula. I report a case of prenatal ultrasonographic detection of Sprengel's deformity.

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.

DISORDERS OF THE UPPER EXTREMITY IN CHILDREN

This article presents a brief overview of the indications of MR imaging in a variety of disorders of the upper extremity of the pediatric patient. This covers congenital anomalies: Sprengel shoulder, Poland sequence, arthrogryposis; posttraumatic lesions of cartilage, bone, tendon, muscle and nerve including the brachial plexus injury; inflammatory arthritis and synovitis; bone and joint infection; osteochondritis dissecans, bone necrosis and infarcts in sickle cell anemia and juvenile Gaucher disease, as well as tumors. In this last category, the authors briefly describe the appearances of cysts and tumors of bones and soft tissues of the upper extremity. Indications for the intravenous administration of Gadolinium are given throughout the article with emphasis on the synovial enhancement seen in active arthritis and synovitis.

Carpal coalition and sprengel's shoulder in poland's syndrome

Carpal coalition and sprengel's shoulder in poland's syndrome

Scapular osteotomy for Sprengel's shoulder: J. A. Wilkinson and D. Campbell. J Bone Joint Surg 62B:486–490, (November), 1980

Scapular osteotomy for Sprengel's shoulder: J. A. Wilkinson and D. Campbell. J Bone Joint Surg 62B:486–490, (November), 1980

Radicular Paresis of the Right Hand Associated with Abnormal Bone Formation of the Seventh Cervical Vertebra and Sprengel's Shoulder

Radicular Paresis of the Right Hand Associated with Abnormal Bone Formation of the Seventh Cervical Vertebra and Sprengel's Shoulder

Case of Double Sprengel's Shoulder Deformity.

Case of Double Sprengel's Shoulder Deformity.