Klippel-Feil Syndrome with Sprengel Deformity

Georgiev, G; Groudeva, Violeta

doi:10.3941/jrcr.v13i5.3565

Cited by 4 publications

(3 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…After the exclusion of chromosomal rearrangements, the possibility of monogenic syndromes, e.g., Klippel-Feil syndrome and RASopathies were suspected. It is known that 7–42% of patients with Sprengel’s deformity are diagnosed with monogenic Klippel-Feil syndrome [18, 19]. However, targeted next-generation sequencing (a custom panel that included GDF3, GDF6, MEOX1, MYO18B, FGFR3, and RASopathy genes) and subsequent exome analysis did not reveal any pathogenic/potentially pathogenic single-nucleotide variants that could explain the etiology of the disease.…”

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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…Среди ассоциированных симптомов в 30 % случаев встречаются нейросенсорная или смешанная тугоухость, парез лицевых мышц, птоз, сходящееся косоглазие, контрактура Дуэйна, аномальное слияние ребер, гипоплазия верхней конечности, болезнь Шпренгеля, нестабильность непораженных сегментов шейного отдела позвоночника [11][12][13]. До 50 % больных имеют сколиоз или другие тяжелые деформации позвоночника [3,12,14].…”

Section: рисunclassified

Staged surgical treatment of brachioplexopathy in an adolescent with Klippel-Feil syndrome: a rare clinical case and literature review

Петрова¹,

Агранович²,

Savina³

et al. 2021

Hir. pozvonoč.

View full text Add to dashboard Cite

Klippel-Feil syndrome is a congenital malformation, the leading component of which is a violation of segmentation of the cervical vertebral bodies. The syndrome can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and cervical ribs. Treatment of the syndrome is usually symptomatic; indications for surgical treatment are progressive neurological disorders and persistent pain syndrome, which usually develop due to instability of unblocked segments, or neurogenic pain. A clinical case of treatment of a 17-year-old patient with Klippel-Feil syndrome who developed a picture of severe upper limb monoparesis during three years due to compression of the brachial plexus associated with cervical ribs is presented. Decompression of the brachial plexus was performed, which led to rapid relief of pain syndrome and gradual partial regression of motor disorders. Due to incomplete restoration of the gripping function, tendon-muscle plasty of the right hand was performed, which significantly improved the possibility of self-care. The results of radiation and staged neurophysiological studies are described, as well as a review of the literature on the Klippel-Feil syndrome.

show abstract

“…As per Harrop et al, athletes are also likely to suffer from catastrophic injuries due to congenital anomalies that change the cervical spine’s structural integrity [ 53 ]. One such anomaly is the Klippel-Feil syndrome, which is a condition that involves the failure of segmentation characterized by a fusion of two or more vertebrae [ 54 ]. In such a condition, a spear tackler’s spine injury may be induced in collision sports as the number of fused segments increases.…”

Section: Introductionmentioning

confidence: 99%

The Spine is the Tree of Life: A Systematic Review and Meta-Analysis of the Radiographic Findings Related to Spinal Injuries in Athletes

Ekhator,

Bellegarde,

Nduma

et al. 2024

Cureus

View full text Add to dashboard Cite

This review article explores spinal injuries in athletes participating in various sporting activities. It also highlights the various mechanisms of injuries that contribute to spinal injuries in each sport. Electronic databases such as PubMed, Cochrane Library, Web of Science, Embase, MEDLINE Ovid, and Google Scholar were searched for articles from 2000 to 2022 on spine injuries in sports and radiological studies discussing the various injury patterns among athletes. Studies were scoured in accordance with the inclusion criteria, and relevant data such as the number of participants, sporting activities, spine injuries, and outcomes were retrieved. Fifteen articles that met the inclusion criteria were included in the study. Cervical spine injuries are common in athletes who participate in contact sports such as football. Similarly, athletes in collision sports such as football, rugby, and hockey are likely to suffer stingers due to traction and compression injuries. Players engaged in such as soccer, baseball, and swimming, are likely to suffer from spondylolysis. Soccer players are more prone to multiple lesions compared to athletes in sports such as baseball because the sport involves training exercises such as jogging and running without kicking any ball. In swimmers, spondylolysis is common in breaststroke and butterfly styles since they involve repeated flexion and hyperextension of the lumbar spine. CT is essential for diagnosing spondylolysis as it demonstrates the lesions more accurately. Ice hockey is associated with a significant incidence of cervical spine injuries, mostly due to players being constantly checked/pushed from behind. Spine injuries are common in elite athletes across several sports. About 10% of spinal injuries in the United States result from sports activities. In diagnosing spine injuries, imaging modalities such as MRI, CT, or plain radiographs are essential. From a radiologist's perspective, these tests help immensely in deciding which treatment is required for a particular athlete or how the injury can be optimally managed. Achieving recovery from a specific spine injury usually depends on the kind of injury and the rehabilitation process the athletes undergo before returning to play.

show abstract

Klippel-Feil Syndrome with Sprengel Deformity

Cited by 4 publications

References 9 publications

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

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

Staged surgical treatment of brachioplexopathy in an adolescent with Klippel-Feil syndrome: a rare clinical case and literature review

The Spine is the Tree of Life: A Systematic Review and Meta-Analysis of the Radiographic Findings Related to Spinal Injuries in Athletes

Contact Info

Product

Resources

About