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Quoted phrase not found in phrase index: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"
Page 1
Hip pathology in Majewski osteodysplastic primordial dwarfism type II.
Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG. Karatas AF, et al. J Pediatr Orthop. 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183. J Pediatr Orthop. 2014. PMID: 24705347
Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in ear …
Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, gi …
Late Periprosthetic Femoral Stress Fracture Associated with Extra-articular Deformity in a Patient with Fibrous Dysplasia: A Case Report.
Dozo MA, Abrego MO, Comba F, Zanotti G, Buttaro MA, Slullitel PA. Dozo MA, et al. JBJS Case Connect. 2023 Jul 21;13(3). doi: 10.2106/JBJS.CC.23.00017. eCollection 2023 Jul 1. JBJS Case Connect. 2023. PMID: 37478317
We report a rare case of a late periprosthetic femoral stress fracture around a cemented stem in a patient with a history of fibrous dysplasia of the proximal femur. ...At 5-year follow-up, the patient was asymptomatic with full return to physical acti …
We report a rare case of a late periprosthetic femoral stress fracture around a cemented stem in a patient with a history of fibrous …
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A. Isidor B, et al. Am J Med Genet A. 2013 Oct;161A(10):2645-51. doi: 10.1002/ajmg.a.36132. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956136
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Ske …
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth lengt …
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T. Mitsui T, et al. Am J Med Genet A. 2014 Oct;164A(10):2529-34. doi: 10.1002/ajmg.a.36669. Epub 2014 Jul 10. Am J Med Genet A. 2014. PMID: 25044890
Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also assoc …
Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and pro …
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
Bradburn JM, Hall BD. Bradburn JM, et al. Am J Med Genet. 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222. Am J Med Genet. 1995. PMID: 8588592
We report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). This is a rare, autosomal recessive skeletal dysplasia with short limbs, severe …
We report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphys …
Changing Pattern of Femoral Deformity During Growth in Polyostotic Fibrous Dysplasia of the Bone: An Analysis of 46 Cases.
Ippolito E, Valentini MB, Lala R, De Maio F, Sorge R, Farsetti P. Ippolito E, et al. J Pediatr Orthop. 2016 Jul-Aug;36(5):488-93. doi: 10.1097/BPO.0000000000000473. J Pediatr Orthop. 2016. PMID: 25887818
BACKGROUND: In polyostotic fibrous dysplasia (PFD) affecting the femur, 6 types of stable femoral deformities have been identified, ranging from the mild type 1 to the most severe type 6. ...CONCLUSIONS: In children with PFD affecting the femur, …
BACKGROUND: In polyostotic fibrous dysplasia (PFD) affecting the femur, 6 types of stable femoral deformities have been …
One-stage osteotomy and fixation using a long proximal femoral nail and fibular graft to correct a severe shepherd's crook deformity in a patient with fibrous dysplasia: a case report.
Kataria H, Sharma N, Kanojia RK. Kataria H, et al. J Orthop Surg (Hong Kong). 2009 Aug;17(2):245-7. doi: 10.1177/230949900901700229. J Orthop Surg (Hong Kong). 2009. PMID: 19721165 Free article.
We report a case where a one-stage osteotomy and fixation, using a long proximal femoral nail and fibular graft, was performed to correct a severe shepherd's crook deformity (70-degree varus and 50-degree retroversion) of the femoral neck with a pathol …
We report a case where a one-stage osteotomy and fixation, using a long proximal femoral nail and fibular graft, was performed …
Martsolf syndrome in Japanese siblings.
Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K. Ehara H, et al. Am J Med Genet A. 2007 May 1;143A(9):973-8. doi: 10.1002/ajmg.a.31626. Am J Med Genet A. 2007. PMID: 17394201
Previously undescribed findings included proximal femoral epiphyseal dysplasia reminiscent of Legg-Calve-Perthes disease in both patients, and Klippel-Feil malformation and osteopathia striata in one patient. Brain MRI showed mild frontal and temporal …
Previously undescribed findings included proximal femoral epiphyseal dysplasia reminiscent of Legg-Calve-Perthes …
Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
Wattanasirichaigoon D, Charoenpipop D. Wattanasirichaigoon D, et al. J Med Assoc Thai. 2006 Aug;89(8):1287-92. J Med Assoc Thai. 2006. PMID: 17048442
Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births. ...The authors describe a male neonate who had characteristic features of thanatophoric dysplasia type I including severe …
Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live …