Literature DB >> 3050913

Perinatal lethal osteogenesis imperfecta: radiologic and pathologic evaluation of seven prenatally diagnosed cases.

H J van der Harten1, J T Brons, P F Dijkstra, C J Meijer, H P van Geijn, N F Arts, M F Niermeijer.   

Abstract

The radiologic and pathologic characteristics of 7 cases of lethal osteogenesis imperfecta (OI), diagnosed prenatally by ultrasound in the 15th to 34th week, are described. They include four variants of the Sillence classification: types IIA, IIB, IIC, and type III. The radiologic criteria that differentiate these types of OI are described. The histopathology of the bones differed only slightly in types IIA, IIB, and III; OI type IIC, however, differed markedly from the other types.

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Year:  1988        PMID: 3050913     DOI: 10.3109/15513818809042968

Source DB:  PubMed          Journal:  Pediatr Pathol        ISSN: 0277-0938


  4 in total

1.  The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study.

Authors:  H J van der Harten; J T Brons; N W Schipper; P F Dijkstra; C J Meijer; H P van Geijn
Journal:  Pediatr Radiol       Date:  1990

2.  The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.

Authors:  W G Cole; C W Chow; J G Rogers; J F Bateman
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

3.  Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.

Authors:  Masaki Takagi; Mitsuru Matsushita; Gen Nishimura; Tomonobu Hasegawa
Journal:  Hum Genome Var       Date:  2014-11-20

4.  Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy.

Authors:  Frederic Shapiro; Kathleen Maguire; Srilatha Swami; Hui Zhu; Evelyn Flynn; Jamie Wang; Joy Y Wu
Journal:  Bone Rep       Date:  2020-12-01
  4 in total

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