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Quoted phrase not found in phrase index: "Thoracic platyspondyly"
Page 1
Progressive Pseudo-rheumatoid Dysplasia: Two Cases in One Family.
Ahmed MF, Ferdous S, Azad AK. Ahmed MF, et al. Mymensingh Med J. 2020 Jul;29(3):734-737. Mymensingh Med J. 2020. PMID: 32844819
Progressive pseudo-rheumatoid dysplasia is an autosomal recessive skeletal dysplasia. Spine radiographs show platyspondyly. The clinical presentations are similar to juvenile idiopathic arthritis, but not the laboratory findings. ...Plain radiographs of the hands and knees …
Progressive pseudo-rheumatoid dysplasia is an autosomal recessive skeletal dysplasia. Spine radiographs show platyspondyly. The clini …
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
In two cases postnatal investigation revealed no certain diagnosis and these included one patient with symmetrical tetraphocomelia with aspects of Roberts and Femur-fibula-Ulna syndrome and one patient at 15 weeks with a lethal skeletal dysplasia with rhizomelic limb shortening, …
In two cases postnatal investigation revealed no certain diagnosis and these included one patient with symmetrical tetraphocomelia with aspe …
Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.
Osella G, Priola AM, Priola SM, Piga A, Longo F, Ventura M, Bentivegna G, Angeli A, Veltri A, Terzolo M. Osella G, et al. J Clin Densitom. 2018 Oct-Dec;21(4):507-516. doi: 10.1016/j.jocd.2017.06.028. Epub 2017 Jul 27. J Clin Densitom. 2018. PMID: 28756994 Free article.
Eighty-two outpatients with beta-thalassemia major on regular conventional treatment were studied at a single academic center. All patients underwent plain thoracic-lumbar spine X-rays and lumbar DXA to assess the number and the severity of vertebral deformities (Genant's …
Eighty-two outpatients with beta-thalassemia major on regular conventional treatment were studied at a single academic center. All patients …
Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.
Luo ZJ, Li H, Yang L, Kang B, Cai T. Luo ZJ, et al. Bone. 2022 Oct;163:116508. doi: 10.1016/j.bone.2022.116508. Epub 2022 Jul 28. Bone. 2022. PMID: 35907616
Furthermore, a hemizygous mutation (c.2830G > A; p.Ala944Thr) in the USP9X gene was identified in the fourth patient with short stature, MED, deformed femoral head, thoracic and lumbar platyspondyly, right ankle condyle dysplasia, and subchondral sclerosis. ...
Furthermore, a hemizygous mutation (c.2830G > A; p.Ala944Thr) in the USP9X gene was identified in the fourth patient with short stature, …
Autosomal recessive brachyolmia: early radiological findings.
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Handa A, et al. Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21. Skeletal Radiol. 2016. PMID: 27544198
Prenatal ultrasound showed bowing of the legs. In infancy, radiographs showed moderate platyspondyly and dumbbell deformity of the tubular bones. Gradually, the platyspondyly became more pronounced, while the bowing of the legs and dumbbell deformities of the tubula …
Prenatal ultrasound showed bowing of the legs. In infancy, radiographs showed moderate platyspondyly and dumbbell deformity of the tu …
Diagnosis and surgical treatment of progressive pseudorheumatoid dysplasia in an adult with severe spinal disorders and polyarthropathy.
Yang X, Song Y, Kong Q. Yang X, et al. Joint Bone Spine. 2013 Dec;80(6):650-2. doi: 10.1016/j.jbspin.2013.03.006. Epub 2013 Apr 23. Joint Bone Spine. 2013. PMID: 23618803
A 44-year-old patient who has been misdiagnosed as juvenile rheumatoid arthritis (JRA) and given unilateral total hip replacement yet, suffers mainly from severe spinal disorder this time. The platyspondyly, Scheuermann-like lesions of the spine and JRA-like features of th …
A 44-year-old patient who has been misdiagnosed as juvenile rheumatoid arthritis (JRA) and given unilateral total hip replacement yet, suffe …
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE. Fiedler J, et al. Spine (Phila Pa 1976). 2003 Nov 15;28(22):E478-82. doi: 10.1097/01.BRS.0000096667.50789.95. Spine (Phila Pa 1976). 2003. PMID: 14624098
Radiologic abnormalities of the patients comprised generalized platyspondyly, a hump-shaped deformity of cervical, thoracal, and lumbar vertebral bodies as well as signs of retrospondylophytes, osteochondrosis, and spondylarthrosis. CONCLUSIONS: X-linked spondyloepi …
Radiologic abnormalities of the patients comprised generalized platyspondyly, a hump-shaped deformity of cervical, thoracal, a …
Platyspondyly in Cushing's syndrome.
Luisiri A, Silberstein MJ, Sundaram M, Graviss ER, Brodeur AE. Luisiri A, et al. Orthopedics. 1985 Dec;8(12):1530, 1532-7. doi: 10.3928/0147-7447-19851201-14. Orthopedics. 1985. PMID: 3832040 No abstract available.
Oto-spondylo-megaepiphyseal dysplasia (OSMED).
Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymüller E. Giedion A, et al. Helv Paediatr Acta. 1982 Sep;37(4):361-80. Helv Paediatr Acta. 1982. PMID: 7153059
The diagnostic radiological findings are the big epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. The occurrence of OSMED in two sisters suggests an autosomal-recessive transmission. ...
The diagnostic radiological findings are the big epiphyses combined with a moderate platyspondyly, most marked in the lower thorac …
19 results