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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1989-6-1
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pubmed:abstractText |
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special attention. We describe 23 cases representing the different subtypes. Within the classical type I (Parenti-Fraccaro) two distinct disorders can be recognized: type IA (Houston-Harris) and type IB (Fraccaro). The classical type II (Langer-Saldino) and hypochondrogenesis represent phenotypic variants of one disorder in which type II is the most severe form and hypochondrogenesis the mildest form, while transitional forms exist. It is likely that a basic defect in cellular function of the chondrocyte results in a deficient cartilage matrix and in disorganized enchondral ossification.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
0277-0938
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
571-97
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:3072551-Bone Matrix,
pubmed-meshheading:3072551-Bone and Bones,
pubmed-meshheading:3072551-Cartilage,
pubmed-meshheading:3072551-Female,
pubmed-meshheading:3072551-Growth Plate,
pubmed-meshheading:3072551-Humans,
pubmed-meshheading:3072551-Infant, Newborn,
pubmed-meshheading:3072551-Male,
pubmed-meshheading:3072551-Osteochondrodysplasias,
pubmed-meshheading:3072551-Pregnancy,
pubmed-meshheading:3072551-Terminology as Topic,
pubmed-meshheading:3072551-Thanatophoric Dysplasia,
pubmed-meshheading:3072551-Ultrasonography
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pubmed:year |
1988
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pubmed:articleTitle |
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases.
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pubmed:affiliation |
Department of Pathology, Free University Hospital, Amsterdam, The Netherlands.
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pubmed:publicationType |
Journal Article
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