Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction

Menezes, Arnold H.; Vogel, Timothy W.

doi:10.1007/s00381-008-0608-6

Cited by 40 publications

(21 citation statements)

References 77 publications

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“…Involvement of the CVJ in JS would not be unexpected as the surrounding structures are dysplastic, including the medulla and cerebellum. There are also homeobox genes that have been implicated in CVJ [14] abnormalities and in ciliopathies [1]; therefore, providing a common pathway that could be altered during embryogenesis.…”

Section: Discussionmentioning

confidence: 99%

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Craniovertebral junction abnormality in a case of Joubert syndrome

2012

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Section: Discussionmentioning

confidence: 99%

“…Clinical information was obtained from a search of our CVJ database including over 6,000 patients treated for CVJ disorders at our hospital for the last 30 years [14] and a search of the English-based literature.…”

Section: Subject and Methodsmentioning

confidence: 99%

Craniovertebral junction abnormality in a case of Joubert syndrome

2012

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“…Mild degree of basilar invagination or Chiari malformation is frequently associated with these anomalies. 2,11,12 Severe forms of basilar invagination are rare and may also present with hydrocephalus. 6,13 CCJ anomalies have been previously reported in association with several clinical syndromes such as Klippel-Feil syndrome, COA syndrome, Wildervanck syndrome or Hajdu-Cheney syndrome.…”

Section: Discussionmentioning

confidence: 99%

Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral Junction

Dağlıoğlu¹,

Alanay²,

Özdöl³

et al. 2010

Turkiye Klinikleri J Med Sci

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2052ranio-cervical junction (CCJ) abnormalities rarely present with absence of posterior cervical elements and partial agenesis of occipital bone. [1][2][3][4][5] The absence of posterior cervical vertebral elements around the craniovertebral junction may predispose to instability of this region.Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral JunctionA AB BS S T TR RA AC CT T Cra ni o cer vi cal junc ti on ano ma li es are ra re and the ir clas si fi ca ti on is con si de rably comp lex. He re we re port two unu su al ca ses of cer vi cal spi ne dysmorp hism pre sen ting with the ab sen ce of pos te ri or ver teb ral ele ments which are al so ac com pa ni ed with Wil der vanck syndro me and hydrocep ha lus. The first ca se was a 17-ye ar-old fe ma le who pre sen ted with short sta tu re, bro ad neck, coar se vo i ce, de af ness as well as bi la te ral la te ral ga ze pa re sis. Cer vi cal com pu te ri zed to mog raphy (CT) and mag ne tic re so nan ce ima ging (MRI) re ve a led the ab sen ce of pos te ri or ver teb ral ele ments of cervi cal spi ne inc lu ding par ti al age ne sis of su boc ci pi tal bo ne, ro ta ti o nal de for mity of cer vi cal co lumn, Chi a ri ab nor ma lity and cystic ca vi ta ti on of cer vi cal spi nal cord. Ad di ti o nally dex tro car di a, which has not be en de fi ned as a fe a tu re of Wil der vanck syndro me yet, was a mar ked fe a tu re of chest X-ray. The se cond ca se was a 32-ye ar-old ma le pre sen ting with comp la ints of ga it dis tur ban ce, dyspho ni a, seve re neck pa in, short sta tu re and sco li o sis. Cer vi cal X-ray, CT and MRI re ve a led se ve re ba si lar in vagi na ti on, ab sen ce of dor sal ele ments of first two cer vi cal ver teb ra e and hydro cep ha lus. Des pi te the ab sen ce of who le pos te ri or cer vi cal ver teb ral ele ments and even oc ci pi tal bo ne, ba si lar in va gi na ti on was not a pre do mi nant fe a tu re in the first ca se. We conc lu de that pre sen ce of a stab le li ga men to us struc tu re only in an te ri or cer vi cal co lumn may ha ve con tri bu ted to the strength of cra ni o cer vi cal junc ti on and exp la ins the ab sen ce of ba si lar in va gi na ti on for Ca se 1.

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“…Clinical information on patients affected by the various forms of CDP and CE were obtained from two sources: a search of our craniovertebral junction (CVJ) database including over 6,000 patients treated for CVJ disorders at the University of Iowa Hospitals and Clinics for the last 30 years [21,22], and a search of the English-based literature. We identified the clinical record of one additional case of CDP with CVJ involvement that was treated at our institution.…”

Section: Methodsmentioning

confidence: 99%

“…The X-link dominant form (CDPX2) was rarely identified as presenting with cervical spine abnormalities. The genetic insights resulting from these cases may help to identify biochemical pathways responsible for the patterning of the cervical spine [21]. Currently, there are no common mutations that allow for correlation between genotype and phenotype [7].…”

Section: Clinical Data and Presentationmentioning

confidence: 99%