Congenital Spine Malformation Research Articles

A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord.

To determine the diagnostic value of fetal magnetic resonance imaging (MRI) for congenital spine/spinal cord malformations. This single-center retrospective study included 120 cases of fetal spine/spinal cord abnormalities detected using fetal ultrasonography (US) and further examined by fetal MRI between 2016 and 2020. Cases were divided into three groups (congenital spine, spinal cord, and spine+spinal cord malformations) based on US assessment. We analyzed the accuracy of fetal US and MRI relative to postnatal imaging. The diagnostic accuracy of fetal MRI for fetal spinal cord, spine, and spine+spinal cord malformations was 86.2% (25/29), 89.4% (42/47), and 86.3% (38/44), respectively, and the corresponding rates for fetal US were 51.7% (15/29), 87.2% (41/47), and 68.2% (30/44). The diagnostic accuracy did not differ between fetal MRI and US for congenital spine malformations (p>0.05); for congenital spinal cord malformations and congenital spine+spinal cord malformations, the diagnostic accuracy was significantly higher for fetal MRI than for fetal US (p<0.05). Fetal MRI is effective in the assessment of congenital spine/spinal cord malformations. It can yield information that supplements US findings, especially for congenital spinal cord malformations, and can improve the accuracy of fetal diagnosis.

Ultrasound of congenital spine anomalies.

Ultrasonography (US) is the first-line imaging modality for screening neonates and young infants with suspected spinal abnormalities. Whether performed for a suspicious congenital skin lesion, such as a lumbosacral tract or lipomatous mass, or abnormal neurological findings, US can help define spinal anatomy, characterize congenital spine malformations, and direct further work-up and management. The purpose of this article is to review the diagnostic imaging approach to infant spine US, including technique and indications, normal anatomy and variants with a focus on embryological origins, and classification and diagnosis of congenital spine malformations.

β1 Integrin regulates convergent extension in mouse notogenesis, ensures notochord integrity and the morphogenesis of vertebrae and intervertebral discs.

The notochord drives longitudinal growth of the body axis by convergent extension, a highly conserved developmental process that depends on non-canonical Wnt/planar cell polarity (PCP) signaling. However, the role of cell-matrix interactions mediated by integrins in the development of the notochord is unclear. We developed transgenic Cre mice, in which the β1 integrin gene (Itgb1) is ablated at E8.0 in the notochord only or in the notochord and tail bud. These Itgb1 conditional mutants display misaligned, malformed vertebral bodies, hemi-vertebrae and truncated tails. From early somite stages, the notochord was interrupted and displaced in these mutants. Convergent extension of the notochord was impaired with defective cell movement. Treatment of E7.25 wild-type embryos with anti-β1 integrin blocking antibodies, to target node pit cells, disrupted asymmetric localization of VANGL2. Our study implicates pivotal roles of β1 integrin for the establishment of PCP and convergent extension of the developing notochord, its structural integrity and positioning, thereby ensuring development of the nucleus pulposus and the proper alignment of vertebral bodies and intervertebral discs. Failure of this control may contribute to human congenital spine malformations.

BIRTH DEFECTS OF HUMAN SPINAL COLUMN

Various anomalies of spinal column development have common clinical manifestations. However, each defect has certain features that affect the nature of the deformity, the rate of its progression, the function of the spinal cord and the possibility of developing neurological disorders. An increase in deformation in the anomaly zone can lead to segmental instability at this level, which further cause disturbance of the biomechanics of the spine in general. The cervical section is the most mobile section of the spine, which is provided by the structure of the Atlantic-axial complex and functional mobility of the subaxial section. The detected anomaly should be evaluated in terms of the likelihood of developing instability. Mechanical instability is manifested by the displacement of vertebrae beyond the physiological range of movements. Neurological instability is mostly manifested in the subaxial section of the spine, as the reserve space of the spinal canal is extremely small. Congenital abnormalities of the thoracic spine that lead to deformity are the most common defects against the ground of impaired formation of vertebral bodies. Children with congenital kyphosis are motionless, and dyspnea occurs while walking fast or jogging. Surgical treatment of kyphotic deformities of the thoracic and lumbar spine is one of the most difficult problems in modern orthopedics, the relevance of which is stipulated by a relatively high frequency of unsatisfactory results of treatment. Lumbarisation is a congenital malformation of the spine, accompanied by the formation of an additional lumbar vertebra, which is formed from the superior sacral vertebra that has not fused into a single bone with the other sacral vertebrae. The frequency of occurrence is unknown, because lumbarisation in some cases is asymptomatic and undiagnosed. Depending on the nature of anatomical changes and the peculiarities of the influence on the dynamic and static functions of the spine, unilateral and bilateral lumbarisation are distinguished. Both unilateral and bilateral forms can be bone, cartilage and joint. The development of pain is characteristic only of the joint form of lumbarisation. Caudal regression syndrome is a rare severe congenital malformation of the distal spine and spinal cord. Clinically the disease is accompanied by hypoplasia of the lower half of the trunk and extremities due to a gross defect in the development of the caudal spine and spinal cord. Depending on the level and severity of the lesion of the latter there is a different stage of neurological deficit. In most observations, caudal regression syndrome is combined with defects in other organs and systems. Depending on the level of damage to the spine, coccyx, sacral, lumbar and even lower thoracic vertebrae may be absent, which determines the variant of the defect. An extremely severe form of caudal regression is called sirenomelia, or "mermaid syndrome". A sign of this anomaly is the fusion of the lower extremities. The fusion can be osseous or within soft tissue. In most cases with sirenomelia renal agenesis is observed, the colon ends blindly, the external and internal genitalia are absent, a single umbilical artery and anus atresia are detected. The quality of life prognosis for patients with caudal regression syndrome depends on the severity of spinal and spinal cord defects, the severity of neurological disorders, and urological complications. Children need constant medical rehabilitation.

Chapter 5 - Fetal and neonatal neurogenetics

Disorders of the developing nervous system may be of genetic origin, comprising congenital malformations of spine and brain as well as metabolic or vascular disorders that affect normal brain development. Acquired causes include congenital infections, hypoxic-ischemic or traumatic brain injury, and a number of rare neoplasms. This chapter focuses on the clinical presentation and workup of neurogenetic disorders presenting in the fetal or neonatal period. After a summary of the most frequent clinical presentations, clues from history taking and clinical examination are illustrated with short case reports. This is followed by a discussion of the different tools available for the workup of neurogenetic disorders, including the various genetic techniques with their advantages and disadvantages. The implications of a molecular genetic diagnosis for the patient and family are addressed in the section on counseling. The chapter concludes with a proposed workflow that may help the clinician when confronted with a potential neurogenetic disorder in the fetal or neonatal period.

Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review.

Congenital malformations of spine and spinal cord are collectively termed as spinal dysraphism. It includes a heterogeneous group of anomalies which result from faulty closure of midline structures during development. Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for diagnosing these conditions. The purpose of this article is to review the normal development of spinal cord and spine and reviewing the MRI features of spinal dysraphism. Although imaging of spinal dysraphism is complicated, a systematic approach and correlation between neuro-radiological, clinical and developmental data helps in making the correct diagnosis.

Developmental Anomalies of the Cervical Spine in Patients With Fibrodysplasia Ossificans Progressiva Are Distinctly Different From Those in Patients With Klippel-Feil Syndrome

A radiographic analysis of the cervical spine of 70 patients diagnosed with fibrodysplasia ossificans progressiva (FOP) and 33 diagnosed with Klippel-Feil (KF) syndrome was conducted. The objectives of this study were to describe cervical spine abnormalities in patients with FOP, to compare and contrast those findings with the malformations in patients with KF syndrome, and to examine the possible etiology of these abnormalities. Congenital features of diseases often provide seminal clues to underlying etiology and developmental pathways. While progressive metamorphosis of connective tissue to heterotopic bone is the most dramatic and disabling feature of FOP, less severe congenital anomalies of the skeleton are also present. Vertebral fusions observed in KF are consistent with defects in embryonic segmentation. The cervical spine plain films of 70 FOP patients and 33 KF patients with documented congenital abnormalities were reviewed. Generalized neck stiffness and decreased range of motion were noted in most children with FOP. In the FOP patient group, characteristic anomalies, including large posterior elements, tall narrow vertebral bodies,and fusion of the facet joints between C2 and C7, were observed. Most notably, these characteristic anomalies of the cervical spine in patients with FOP were distinctly different from those of 33 patients with KF that were examined but were strikingly similar to those seen in mice with homozygous deletions of the gene-encoding noggin, a bone morphogenetic protein (BMP) antagonist. FOP patients exhibit a characteristic set of congenital spine malformations. While the noggin gene (NOG) is not mutated in patients who have FOP, these findings extend a growing body of evidence implicating overactivity of the BMP signaling pathway in the molecular pathogenesis of FOP.