Thanatophoric dysplasia and cloverleaf skull

作者: Leonard O. Langer , S. Samuel Yang , Judith G. Hall , Annemarie Sommer , Sambasiva R. Kottamasu

DOI: 10.1002/AJMG.1320280521

关键词: KLEEBLATTSCHADELThanatophoric dysplasiaRadiographyAnatomyFlat vertebral bodiesMedicineCloverleaf skullOsteochondrodysplasia

摘要: Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases reviewed. These compared to of TD without CS. It is concluded that there two types TD: type 1, curved femora very flat vertebral bodies; 2, straight taller bodies. Consistent but subtle histopathological characteristics differentiate the types. Only a few 1 have CS, CS mild. Almost all 2 severe

参考文章(23)
Q. S. Moore, S. Banik, Ultrasound scanning in a case of thanatophoric dwarfism with clover-leaf skull British Journal of Radiology. ,vol. 53, pp. 241- 245 ,(1980) , 10.1259/0007-1285-53-627-241
M. W. Partington, F. Gonzales-Crussi, S. G. Khakee, D. G. Wollin, Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship. Archives of Disease in Childhood. ,vol. 46, pp. 656- 664 ,(1971) , 10.1136/ADC.46.249.656
W.A. Horton, D.L. Rimoin, D.W. Hollister, R.S. Lachman, Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types The Journal of Pediatrics. ,vol. 94, pp. 736- 742 ,(1979) , 10.1016/S0022-3476(79)80140-7
Francoise Serville, Dominique Carles, Pierre Maroteaux, John M. Opitz, Thanatophoric dysplasia of identical twins. American Journal of Medical Genetics. ,vol. 17, pp. 703- 705 ,(1984) , 10.1002/AJMG.1320170322
William A. Horton, David J. Harris, Debra L. Collins, John M. Opitz, Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia American Journal of Medical Genetics. ,vol. 15, pp. 97- 101 ,(1983) , 10.1002/AJMG.1320150113
John G. Gruhn, Dyssegmental Dwarfism American Journal of Diseases of Children. ,vol. 132, pp. 382- 386 ,(1978) , 10.1001/ARCHPEDI.1978.02120290054010
J. A. Bloomfield, Cloverleaf skull and thanatophoric dwarfism. Journal of Medical Imaging and Radiation Oncology. ,vol. 14, pp. 429- 434 ,(1970) , 10.1111/J.1440-1673.1970.TB02926.X
G. Iannaccone, G. Gerlini, The so-called “cloverleaf skull syndrome” Pediatric Radiology. ,vol. 2, pp. 175- 183 ,(1974) , 10.1007/BF00972730
Daiji Sato, Yoshiaki Hosokawa, Yasuhiro Nakamuba, Toshihiko Mukae, Teruyuki Nakashima, Yoshiharu Komatsu, Shyoichi Kabashima, THANATOPHORIC DYSPLASIA OF IDENTICAL TWINS Pathology International. ,vol. 31, pp. 895- 902 ,(2008) , 10.1111/J.1440-1827.1981.TB02814.X
Chester B. Whitley, Leonard O. Langer, Janice Ophoven, Enid F. Gilbert, Claudette H. Gonzalez, Mark Mammel, Michael Coleman, Sergio Rosemberg, Consuelo J. Rodriques, Richard Sibley, William A. Horton, John M. Opitz, Robert J. Gorlin, Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology American Journal of Medical Genetics. ,vol. 19, pp. 265- 275 ,(1984) , 10.1002/AJMG.1320190209