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Year Number of Results
1976 1
1988 1
1990 1
1991 1
1992 1
1993 1
1995 2
1997 2
2000 1
2002 1
2003 1
2004 2
2007 2
2008 4
2010 2
2011 5
2012 3
2013 2
2014 4
2015 2
2016 6
2017 3
2018 3
2019 3
2020 3
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59 results

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Page 1
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. ...
The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compressio …
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differing modes of inheritance, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting sympto …
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differi …
Decision making.
Menezes AH. Menezes AH. Childs Nerv Syst. 2008 Oct;24(10):1147-53. doi: 10.1007/s00381-008-0604-x. Epub 2008 Mar 26. Childs Nerv Syst. 2008. PMID: 18365212 Review.
INTRODUCTION: The craniocervical junction is affected by numerous pathological processes. This involves congenital, developmental, and acquired abnormalities. It can result in neurological deficit secondary to neurovascular compression, abnormal cerebrospinal fluid dynamic …
INTRODUCTION: The craniocervical junction is affected by numerous pathological processes. This involves congenital, developmental, and acqui …
Mucopolysaccharidosis type I.
Wraith JE, Jones S. Wraith JE, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Pediatr Endocrinol Rev. 2014. PMID: 25345091 Review.
Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) is seen in severe variants of MPS I. The hypoplastic odontoid putting these patients at high risk of cervical cord damage. ...SCHEIE …
Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) …
Basilar invagination.
Smith JS, Shaffrey CI, Abel MF, Menezes AH. Smith JS, et al. Neurosurgery. 2010 Mar;66(3 Suppl):39-47. doi: 10.1227/01.NEU.0000365770.10690.6F. Neurosurgery. 2010. PMID: 20173526 Review.
BACKGROUND: Basilar invagination is a developmental anomaly of the craniovertebral junction in which the odontoid abnormally prolapses into the foramen magnum. It is often associated with other osseous anomalies of the craniovertebral junction, including atlanto-occipital …
BACKGROUND: Basilar invagination is a developmental anomaly of the craniovertebral junction in which the odontoid abnormally prolapse …
Condylus tertius: A review of a neglected developmental condition.
González-Ruiz A, Santos AL. González-Ruiz A, et al. Anthropol Anz. 2022 Feb 2;79(1):95-100. doi: 10.1127/anthranz/2021/1454. Anthropol Anz. 2022. PMID: 34487134 Review.
One female individual (0.5%) had CT with irregular margins and porosity. In addition to the CT, the odontoid process of the axis had an increase in its retroversion angle and looked enlarged. The vertebra L1 showed hypoplasia of the right transverse process and the …
One female individual (0.5%) had CT with irregular margins and porosity. In addition to the CT, the odontoid process of the axis had …
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.
Peck SH, Casal ML, Malhotra NR, Ficicioglu C, Smith LJ. Peck SH, et al. Mol Genet Metab. 2016 Aug;118(4):232-43. doi: 10.1016/j.ymgme.2016.06.002. Epub 2016 Jun 4. Mol Genet Metab. 2016. PMID: 27296532 Free PMC article. Review.
Within the spectrum of skeletal disease, spinal manifestations are particularly prevalent. Developmental and degenerative abnormalities affecting the substructures of the spine can result in compression of the spinal cord and associated neural elements. ...Therefore, there …
Within the spectrum of skeletal disease, spinal manifestations are particularly prevalent. Developmental and degenerative abnormalities …
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, Thacker MM, Mackenzie WG, Suzuki Y, Orii T. Tomatsu S, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):931-45. doi: 10.2174/138920111795542615. Curr Pharm Biotechnol. 2011. PMID: 21506915 Review.
Common presenting features include elevation of urinary and blood KS, marked short stature, hypoplasia of the odontoid process, pectus carinatum, kyphoscoliosis, genu valgum, laxity of joints and corneal clouding; however there is no central nervous system impairmen …
Common presenting features include elevation of urinary and blood KS, marked short stature, hypoplasia of the odontoid process …
The Retroverted Dens: A Review of its Anatomy, Terminology, and Clinical Significance.
Ishak B, Dhaliwal G, Rengifo R, McCormack E, Mathkour M, Iwanaga J, Bui CJ, Dumont AS, Tubbs RS. Ishak B, et al. World Neurosurg. 2020 May;137:304-309. doi: 10.1016/j.wneu.2020.01.231. Epub 2020 Feb 10. World Neurosurg. 2020. PMID: 32058112 Review.
Key words for our search included retroverted dens; retroflexed dens; odontoid retroflexion; posterior inclination; and tilted dens. RESULTS: A retroverted dens is most commonly found in the pediatric population in relation to CM1. ...
Key words for our search included retroverted dens; retroflexed dens; odontoid retroflexion; posterior inclination; and tilted dens. …
59 results