Sprengel’s deformity and spinal dysraphism: connecting the shoulder and the spine

Aalst, Jasper van; Vles, J. S. H.; Cuppen, Inge; Sival, Deborah A; Niks, Erik H.; Rhijn, Lodewijk W. van; Steensel, M.A.M. van; Cornips, Erwin M. J.

doi:10.1007/s00381-013-2057-0

Cited by 8 publications

(5 citation statements)

References 31 publications

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“…The locations are not randomly distributed over the neural tube ( P = 2.0*10 −5 ) but show a preference for the occipital region, vertebrae C6 till T3 and the region between T8 and S1 with a peak at L5. (Richards et al, ; Tekkok, ; Etus et al, ; Singh and Singh, ; Srinivas et al, ; Ahmad and Mahapatra, ; Vashu and Liew, ; Bear et al, ; Carmody et al, ; Dankovcik et al, ; Singh and Singh, ; Singh et al, ; Vogel et al, ; Ahmed et al, ; Herman et al, ; Leykamm et al, ; Mahalik et al, ; Meuli et al, ; Sarici et al, ; van Aalst et al, ; Yang et al, ; De la Calle et al, ; Garg et al, ; Gressot et al, ; Hawasli et al, ; Leoni et al, ; Meadows and Hayes, ; Meunier et al, ; Perez da Rosa et al, ; Anand and Mahmoud, ; Canaz et al, ; Hanaei et al, ; Paul et al, ; Radtke et al, ; Ramdurg et al, ; Sargar et al, ; Wood et al, ; Arishima et al, ; Clark and Davidson, ; Dickman et al, ; Dorum et al, ; Santos et al, ; Sharma et al, ; Zhou and Zheng, ). [Color figure can be viewed at http://wileyonlinelibrary.com]…”

Section: Materials and Methods And Resultsmentioning

confidence: 99%

Single‐site neural tube closure in human embryos revisited

et al. 2017

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Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure. To verify the theories of closure, we studied serial histological sections of 10 mouse embryos between 8.5 and 9.5 days of gestation and 18 human embryos of the Carnegie collection between Carnegie stage 9 (19-21 days) and 13 (28-32 days). Neural tube closure was histologically defined by the neuroepithelial remodeling of the two adjoining neural fold tips in the midline. We did not observe multiple fusion sites in neither mouse nor human embryos. A meta-analysis of case reports on neural tube defects showed that defects can occur at any level of the neural axis. Our data indicate that the human neural tube fuses at a single site and, therefore, we propose to reinstate the single-site closure theory for neural tube closure. We showed that neural tube defects are not restricted to a specific location, thereby refuting the reasoning underlying the multi-site closure theory. Clin. Anat. 30:988-999, 2017. © 2017 Wiley Periodicals, Inc.

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Section: Materials and Methods And Resultsmentioning

confidence: 99%

Single‐site neural tube closure in human embryos revisited

et al. 2017

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“…Experience is required in both methods and our case is a lesson in humility for the very experienced team of radiologists. Nonetheless, to the best of our knowledge, in this case, we were dealing with a hitherto unknown constellation of anomalies, although deformities of vertebral bodies, including Klippel-Feil syndrome, deformities in or the absence of ribs, genitourinary anomalies, and spinal dysraphism (myelomeningocele, posterior MC, tethered cord) have already been described, always postnatally, in association with Sprengel’s deformity [21]. We have found neither a description of the associated lateral MC protruding through the neural foramen, nor of its coexistence with vestigial posterior MC and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction.…”

Section: Discussionmentioning

confidence: 99%

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel’s Deformity with Unusual Associations

Jaczyńska¹,

Bekiesińska‐Figatowska²,

Sobieraj³

et al. 2023

Fetal Diagn Ther

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Introduction: Sprengel’s deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3–8 years. Correct diagnosis is very important because Sprengel’s deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel’s deformity, even those with a mild form of the defect. Case Presentation: We report a case of prenatal sonographic diagnosis of Sprengel’s deformity with additional features, as yet undescribed and missed – although visible – on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel’s anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. Conclusion: Diagnosis of Sprengel’s deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.

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“…Additionally, we compared the clinical features in our patient with previous cases diagnosed with CM-II and Sprengel’s deformity (Table 2 ) [ 12 ]. Although the genotypes were not available for all these cases, we found multiple segmentation defects of the spine, ribs, and shoulder among these patients, which suggests that these symptoms might result from a common genetic defect affecting somitogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Their results indicated that the parts of the skeleton affected in CM-I/II, Sprengel’s deformity and the KlippelFeil syndrome all derive from a specific population of neural crest cells, suggesting these diseases might have a similar developmental origin. However, research on the association between spinal dysraphism and Sprengel’s deformity is scarce [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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BackgroundChiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel’s deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel’s deformity have been previously reported, both of these defects are considered to be sporadic, thus the exact etiology and causative genes have largely remained unknown.Case presentationThe patient was diagnosed with CM-II accompanied with Sprengel’s deformity. Further genetic investigation revealed a novel 666 kb microdeletion located in 3q29 (chr3:194,532,035–195,198,585; Hg19). Subsequently, genes within the affected region were summarized, and XXYLT1 and ACAP2 were identified as the candidate genes.ConclusionWe reported a case of a patient with CM-II and Sprengel’s deformity harboring a microdeletion in 3q29. This case highlights the importance of 3q29 in early neural and skeletal development, as well as expands the phenotype spectrum of this rare disorder.

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Sprengel’s deformity and spinal dysraphism: connecting the shoulder and the spine

Cited by 8 publications

References 31 publications

Single‐site neural tube closure in human embryos revisited

Single‐site neural tube closure in human embryos revisited

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel’s Deformity with Unusual Associations

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

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