Embryology of the spine and associated congenital abnormalities

Kaplan, Kevin; Spivak, Jeffrey M.; Bendo, John A.

doi:10.1016/j.spinee.2004.10.044

Cited by 268 publications

(234 citation statements)

References 35 publications

Supporting

Mentioning

214

Contrasting

Unclassified

Order By: Relevance

“…Although possible at any level of the vertebral column, MMC usually affects the dorsal parts of the lumbosacral spine segments [1,7]. Thus, anterior cervical MMC in KFS is a very rare condition with only two previously published case reports so far.…”

Section: Discussionmentioning

confidence: 99%

“…Anterior migrating and proliferating cells from the mesodermal layer generate the chorda process, a precursor of the subsequently evolving notochord. In split notochord syndrome, persisting tissue adhesions between the entoderm and the ectoderm are assumed to prevent the complete closure of the notochord, inducing insufficient development of the vertebrae bodies in subsequent ontogenesis [1,8]. Initially described by Maurice Klippel and Andre Feil, multiple classification systems have been proposed, based on radiographic appearance, neurological symptoms, genetic alterations and intersegmental mobility [9].…”

Section: Discussionmentioning

confidence: 99%

“…Although the aetiology still remains unclear, defects of the notochord and its signalling with insufficient separation of the cervical vertebrae are considered the main underlying cause [1]. Subsequently, partial or complete fusion of two or more cervical vertebrae is the hallmark of KFS, usually associated with further osseous and non-osseous manifestations like low posterior hairline, brevicollis, basilar impression, atlanto-occipital fusion, scoliosis, facial asymmetry, torticollis, ''Sprengel's deformity'' and other genitourinary, central nervous and cardiopulmonary anomalies.…”

Section: Introductionmentioning

confidence: 99%

“…Subsequently, partial or complete fusion of two or more cervical vertebrae is the hallmark of KFS, usually associated with further osseous and non-osseous manifestations like low posterior hairline, brevicollis, basilar impression, atlanto-occipital fusion, scoliosis, facial asymmetry, torticollis, ''Sprengel's deformity'' and other genitourinary, central nervous and cardiopulmonary anomalies. Neurological symptoms are infrequent (36 and 50 % in two studies) and include radiculopathy and myelopathy up to tetraparesis [1,2]. Since hardly attributable to the fused vertebrae, symptoms are usually caused by spondylosis or instability of the segments neighbouring the fused vertebrae or by radicular compression within frequently undersized neuroforamina.…”

Section: Introductionmentioning

confidence: 99%

“…microcephaly or syrinx, anterior cervical meningomyelocele (MMC) is rarely observed and has only been described in two case reports and both patients were treated conservatively. To our knowledge surgical management has not been described yet [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

et al. 2013

View full text Add to dashboard Cite

Introduction Klippel-Feil syndrome (KFS) is considered a rare developmental disorder characterized by mono-or multisegmental fusion of the cervical vertebrae which is frequently associated with diverse non-osseous, e.g. neural, visceral, cardiopulmonary and genitourinary development anomalies. Anterior cervical meningomyelocele (MMC) in KFS has only been described in two previous patients, both with non-surgical treatment. Clnical presentation We present the case of a 26-year-old female suffering from KFS, presenting with progressive bilateral C6 paraesthesias, C7 and C8 motor weakness and myelopathy. Radiological imaging revealed incomplete osseous fusion of the vertebrae C2-Th1. The spinal cord was displaced ventro-caudally through a large anterior MMC, apparently fixed at the dorsal oesophagus, severely stretching the cervical nerve roots. Surgery was indicated due to progression of the symptoms and was performed through a combined partial sternotomy and ventral anterolateral cervical approach. Intraoperatively, both division of oesophago-dural adhesions and intradural untethering of adhesions of the myelon with caudal parts of the cele were performed. Evoked somatosensory potentials improved immediately and 6-day postoperative MRI revealed a nearly complete reposition of the spinal cord in its physiological position. Genetic sequence analyses ruled out mutation of the growth and differentiation factor 6 (GDF6). Apart from slight intermittent paraesthesia, symptoms resolved almost completely within weeks after operation. Both radiological and neurological improvement remained stable at 16 months of follow-up. Conclusion KFS with anterior cervical MMC is rarely seen and may require surgery in case of clincial signs of nerve root compression or myelopathy. Osseous decompression, untethering and adhesiolysis under electrophysiological monitoring can provide sufficient radiological and clinical improvement.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

et al. 2013

View full text Add to dashboard Cite

show abstract

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes

Giampietro

Armstrong

Stoddard

et al. 2014

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS). The diagnosis of KFS was favored, given that the neck anomalies were the predominant manifestations, and that the diagnosis predated later recognition of the association between spinal segmentation abnormalities and TCS. Genetic heterogeneity and the rarity of large families with KFS have limited the ability to identify mutations by traditional methods. Whole exome sequencing identified a nonsynonymous mutation in POLR1D (subunit of RNA polymerase I and II): exon2:c.T332C:p.L111P. Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS. We propose that this mutation is causal in this family, suggesting a pathogenetic link between KFS and TCS.

show abstract

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

Castori

Servadei

Laino

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Autosomal aneuploidies associate with multiple minor skeletal defects, which, in fetuses, are best appreciated post-mortem after specific anatomic preparations. The present study was aimed to define patterns of skeletal anomalies in autosomal aneuploidies at standard radiology in second trimester fetuses by comparing findings in and among genotypes and gestational ages. Aneuploid fetuses were selected for availability of radiographs of various axial and non-axial structures, mainly homeotic transformations, vertebral clefts, vertebral segmentation and ossification defects, absent/hypoplastic nasal bone, premature talar calcifications, and selected appendicular anomalies. Eighty six fetuses with trisomy 21, 39 with trisomy 18, eight with trisomy 13, six with triploidy, and six with rare autosomal aneuploidies were identified, 75.2% showing an abnormal costo-vertebral pattern, mostly cervical ribs, absence of the 12th thoracic ribs and posterior homeotic change. Clefting was observed along the entire spine, especially sagittal lumbar clefts, and coronal thoracic clefts. Four different types of vertebral clefting were identified, including type 1 (butterfly), type 2 (incomplete inferior), type 3 (incomplete superior), and type 4 (complete). Attenuation of clefting by gestational age was observed in trisomy 21 and 18. These findings define more clearly the pattern of perturbed morphogenesis in aneuploidy as a type of amplified developmental instability with pleiotropic effects on skeletogenesis.

show abstract

Embryology of the spine and associated congenital abnormalities

Cited by 268 publications

References 35 publications

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

Contact Info

Product

Resources

About