The spondylometaphyseal dysplasias. A tentative classification
- PMID: 1870931
- DOI: 10.1007/BF02018629
The spondylometaphyseal dysplasias. A tentative classification
Abstract
The spondylometaphyseal dysplasias constitute a very complex group of disorders. In addition to the Kozlowski type, three subgroups can be distinguished by the appearance of the femoral neck. In the first group (A) the changes are severe with absent ossification of the femoral neck and coxa vara. In the second group (B) the changes of the femoral neck are moderate and in the third (C) mild metaphyseal irregularities are only visible. This classification is not definitive but tries to put order in this confusing section of constitutional bone diseases.
Similar articles
-
Metaphyseal and spondylometaphyseal chondrodysplasias.Clin Orthop Relat Res. 1976 Jan-Feb;(114):83-93. Clin Orthop Relat Res. 1976. PMID: 1261138
-
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.Pediatr Radiol. 2025 Mar;55(3):505-519. doi: 10.1007/s00247-024-06145-7. Epub 2025 Jan 18. Pediatr Radiol. 2025. PMID: 39825918
-
Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.J Pediatr Orthop. 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. J Pediatr Orthop. 2008. PMID: 18724194
-
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.Pediatr Radiol. 2000 Jan;30(1):14-24. doi: 10.1007/s002470050005. Pediatr Radiol. 2000. PMID: 10663502 Review.
-
Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.Diagn Interv Radiol. 2006 Jun;12(2):70-3. Diagn Interv Radiol. 2006. PMID: 16752352 Review.
Cited by
-
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.Orthop Surg. 2018 Aug;10(3):241-246. doi: 10.1111/os.12382. Epub 2018 Jul 19. Orthop Surg. 2018. PMID: 30027601 Free PMC article.
-
Japanese type of spondylo-metaphyseal dysplasia.Pediatr Radiol. 1994;24(3):194-7. doi: 10.1007/BF02012189. Pediatr Radiol. 1994. PMID: 7936797
-
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.
-
A new form or a variant of SMD type A4.J Appl Genet. 2012 Aug;53(3):289-94. doi: 10.1007/s13353-012-0094-0. Epub 2012 Apr 24. J Appl Genet. 2012. PMID: 22528043 Free PMC article. No abstract available.
-
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
References
MeSH terms
LinkOut - more resources
Molecular Biology Databases