A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
Rossi, M.; De Brasi, D.; Hall, C.M.; Battagliese, A.; Melis, D.; Sebastio, G.; Andria, G.
Clinical Dysmorphology 14(1): 13-18
2005
ISSN/ISBN: 0962-8827
PMID: 15602087
DOI: 10.1097/00019605-200501000-00003
Accession: 048086883
We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.
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Mégarbané, A.; Ghanem, I.; Le Merrer, M. 2003: Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature American Journal of Medical Genetics. Part a 122a(3): 252-256Geindre, M.; Bernard, Y.; Bost, M.; Coulomb, M. 1968: Micromelic form of spondylo-epiphyso-metaphyseal dysplasia involving the extremities (a case) Journal de Radiologie d'Electrologie et de Medecine Nucleaire 49(11): 867-870
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Kozlowski, K.; Bellemore, M.C. 1989: Spondylo-metaphyseal dysplasia of Sutcliffe type British Journal of Radiology 62(741): 862-864
Hasegawa, T.; Kozlowski, K.; Nishimura, G.; Hara, H.; Hasegawa, Y.; Aso, T.; Koto, S.; Nagai, T.; Tsuchiya, Y. 1994: Japanese type of spondylo-metaphyseal dysplasia Pediatric Radiology 24(3): 194-197
Bragoszewska, H.; Winnicki, S.; Romaniuk, A. 1995: Spondylo-metaphyseal dysplasia type I (Kozłowski) Pediatria Polska 70(10): 879-883
Jackson, W.P.; Albright, F.; Drewry, G.; Hanelin, J.; Rubin, M.I. 1954: Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling A.M.A. Archives of Internal Medicine 94(6): 871-885
Kozlowski, K.; Prokop, B.E.; Scougall, J.S.; Silink, M.; Vines, R.H. 1979: Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of "new varities") Rofo: Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin 130(2): 222-230
Kozlowski, K.; Cremin, B.; Beighton, P. 1980: Variability of spondylo-metaphyseal dysplasia, common type Radiologia Diagnostica 21(5): 682-686
Sharma, B.G. 2003: A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type" Skeletal Radiology 32(2): 111-115
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Hiyama, K. 1977: Ultrastructure of chondrocytes of spondylo metaphyseal dysplasia kozlowski type Japanese Journal of Clinical Electron Microscopy 6: 499-500
Rybak, M.; Foley, T.P.; Kozlowski, K. 1991: Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome American Journal of Medical Genetics 40(3): 304-306
Kimura-Ohba, S.; Kagitani-Shimono, K.; Hashimoto, N.; Nabatame, S.; Okinaga, T.; Murakami, A.; Miyake, N.; Matsumoto, N.; Osaka, H.; Hojo, K.; Tomita, R.; Taniike, M.; Ozono, K. 2013: A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia American Journal of Medical Genetics. Part a 161a (1): 203-207
Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L. 1988: A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases Pediatric Radiology 18(3): 221-226