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Quoted phrase not found in phrase index: "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
Page 1
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964829
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as wi …
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasi …
Use of distraction osteogenesis techniques in skeletal dysplasias.
Myers GJ, Bache CE, Bradish CF. Myers GJ, et al. J Pediatr Orthop. 2003 Jan-Feb;23(1):41-5. J Pediatr Orthop. 2003. PMID: 12499941
Circular frames were associated with improved results. Spondylometaphyseal dysplasia and Jeune syndrome were the only dysplasias treated that were associated with significant complications....
Circular frames were associated with improved results. Spondylometaphyseal dysplasia and Jeune syndrome were the only dysplasi …
Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.
Osebold WR, Poznanski AK, Opitz JM, Langer LO Jr, Spranger JW, Unni KK. Osebold WR, et al. Am J Med Genet. 1998 Nov 16;80(3):187-95. doi: 10.1002/(sici)1096-8628(19981116)80:3<187::aid-ajmg1>3.0.co;2-#. Am J Med Genet. 1998. PMID: 9843035
We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolys …
We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a pr …