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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1989 1
1991 2
1993 1
1998 1
1999 1
2004 1
2005 3
2006 1
2007 1
2012 3
2013 1
2014 2
2016 1
2017 2
2018 3
2020 2
2023 2
2024 0

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27 results

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Page 1
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Melbouci M, et al. Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16. Mol Genet Metab. 2018. PMID: 29627275 Free PMC article. Review.
Imbalance of growth leads to various skeletal abnormalities including disproportionate dwarfism with short neck and trunk, prominent forehead, rigidity of joints, tracheal obstruction, kyphoscoliosis, pectus carinatum, platyspondyly, round-shaped vertebral bodies or beakin …
Imbalance of growth leads to various skeletal abnormalities including disproportionate dwarfism with short neck and trunk, prominent forehea …
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 compression, tracheal ob …
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
Some characteristics and clinical findings include premature fusion of cranial sutures and deviated broad thumbs and toes in PS; premature fusion of cranial sutures and syndactyly of the hands and feet in AS; craniosynostosis, ocular proptosis, and absence of hand and foot abnorm …
Some characteristics and clinical findings include premature fusion of cranial sutures and deviated broad thumbs and toes in PS; premature f …
The radiological appearances of thalassaemia.
Tyler PA, Madani G, Chaudhuri R, Wilson LF, Dick EA. Tyler PA, et al. Clin Radiol. 2006 Jan;61(1):40-52. doi: 10.1016/j.crad.2005.07.006. Clin Radiol. 2006. PMID: 16356815 Review.
The skeletal changes of untreated thalassaemia result from ineffective erythropoiesis and expansion of the bone marrow and affect every part of the skeleton. These changes include osteoporosis, growth retardation, platyspondyly and kyphosis. Erythropoiesis occurs at extra- …
The skeletal changes of untreated thalassaemia result from ineffective erythropoiesis and expansion of the bone marrow and affect every part …
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.
Chouery E, Karam R, Mrad YN, Mehawej C, Dib El Jalbout N, Bleik J, Mahfoud D, Megarbane A. Chouery E, et al. Genes (Basel). 2023 Feb 15;14(2):497. doi: 10.3390/genes14020497. Genes (Basel). 2023. PMID: 36833424 Free PMC article. Review.
Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including generalized osteoporosis, multiple long bones fractures, platyspondyly, dense cataracts and retinal detachment, and dysmorphic facial featu …
Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including genera …
Morquio A syndrome: diagnosis and current and future therapies.
Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. Tomatsu S, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):141-51. Pediatr Endocrinol Rev. 2014. PMID: 25345096 Free PMC article. Review.
The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints. In spite of many descriptions of the unique clinical manifestations, diag …
The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, p …
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
The skeletal-related symptoms for MPS IVA include short stature with short neck and trunk, odontoid hypoplasia, spinal cord compression, tracheal obstruction, obstructive airway, pectus carinatum, restrictive lung, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, wa …
The skeletal-related symptoms for MPS IVA include short stature with short neck and trunk, odontoid hypoplasia, spinal cord compression, tra …
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Yuskiv N, Higaki K, Stockler-Ipsiroglu S. Yuskiv N, et al. Int J Mol Sci. 2020 Nov 30;21(23):9121. doi: 10.3390/ijms21239121. Int J Mol Sci. 2020. PMID: 33266180 Free PMC article. Review.
The main skeletal features are progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly and odontoid hypoplasia. The main neuronopathic features are dystonia, ataxia, and intellectual/developmental/speech delay. ...
The main skeletal features are progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly and odont …
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Lemyre E, et al. Can Assoc Radiol J. 1999 Jun;50(3):185-97. Can Assoc Radiol J. 1999. PMID: 10405653 Review.
It has distinct features--mainly short tubular bones and short ribs with platyspondyly--allowing a precise radiologic and prenatal ultrasonographic diagnosis. ...
It has distinct features--mainly short tubular bones and short ribs with platyspondyly--allowing a precise radiologic and prenatal ul …
Platyspondyly in childhood.
Kozlowski K. Kozlowski K. Pediatr Radiol. 1974;2(2):81-7. doi: 10.1007/BF01314936. Pediatr Radiol. 1974. PMID: 15822328 Review. No abstract available.
27 results