Skeletal Dysplasia Syndromes

作者: Kazimierz Kozlowski , Peter Beighton

DOI: 10.1007/978-1-4471-0295-3_3

关键词: Differential diagnosisSpondyloepiphyseal dysplasiaDysplasiaFibrous dysplasiaMetaphyseal dysplasiaMedicineStickler syndromePathologySotos syndromeTubular bone

摘要: In addition to the classical skeletal dysplasias, there are other multi-system disorders in which osseous abnormalities form a significant syndromic component. Conditions of this type that enter into radiological differential diagnosis dysplasias included section.

参考文章(853)
Joyce A. Schild, Mahmood F. Mafee, Marilyn F. Miller, Wildervanck syndrome--the external appearance and radiologic findings. International Journal of Pediatric Otorhinolaryngology. ,vol. 7, pp. 305- 310 ,(1984) , 10.1016/S0165-5876(84)80013-0
Victor B. Penchaszadeh, Estatio R. Gutierrez, Ernesto Figueroa P., Autosomal recessive craniometaphyseal dysplasia. American Journal of Medical Genetics. ,vol. 5, pp. 43- 55 ,(1980) , 10.1002/AJMG.1320050107
Douglas J. Wilkin, Andrew S. Artz, Sarah South, Ralph S. Lachman, David L. Rimoin, William R. Wilcox, Victor A. McKusick, Constantine A. Stratakis, Clair A. Francomano, Daniel H. Cohn, Small deletions in the type II collagen triple helix produce Kniest dysplasia American Journal of Medical Genetics. ,vol. 85, pp. 105- 112 ,(1999) , 10.1002/(SICI)1096-8628(19990716)85:2<105::AID-AJMG2>3.0.CO;2-Z
Melissa P. Wasserstein, John A. Martignetti, Robert Zeitlin, Harry Lumerman, Marshall Solomon, Marie E. Grace, Robert J. Desnick, Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid β-glucosidase mutation American Journal of Medical Genetics. ,vol. 84, pp. 334- 339 ,(1999) , 10.1002/(SICI)1096-8628(19990604)84:4<334::AID-AJMG5>3.0.CO;2-P
M Matucci-Cerinic, S Cinti, M Morroni, T Lotti, G Nuzzaci, E Lucente, S di Lollo, M Ceruso, M Cagnoni, Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement. Annals of the Rheumatic Diseases. ,vol. 48, pp. 240- 246 ,(1989) , 10.1136/ARD.48.3.240
Richard E. Slavin, Julie Wen, Dhruv Kumar, E Burke Evans, Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. The American Journal of Surgical Pathology. ,vol. 17, pp. 788- 802 ,(1993) , 10.1097/00000478-199308000-00004
Cathy A. Stevens, John C. Carey, Brent L. Blackburn, Rubinstein-Taybi syndrome: a natural history study. American Journal of Medical Genetics. ,vol. 37, pp. 30- 37 ,(2005) , 10.1002/AJMG.1320370605
Anthony H. Lipson, Kazimierz Kozlowski, Antoni Barylak, William Marsden, Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. American Journal of Medical Genetics. ,vol. 41, pp. 176- 179 ,(1991) , 10.1002/AJMG.1320410208
MaríA-Luisa Martínez-Frías, Eva Bermejo, Miguel Urioste, Javier Egüés, José A. LÓPez Soler, Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? American Journal of Medical Genetics. ,vol. 47, pp. 782- 787 ,(1993) , 10.1002/AJMG.1320470536