| Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. | |
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MedLine Citation:
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PMID: 3281118 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over-diagnosed in the past, sometimes resulting in incorrect genetic counselling. Significant radiologic features include an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life. |
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Authors:
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R S Lachman; D L Rimoin; J Spranger |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Pediatric radiology Volume: 18 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 1988 |
Date Detail:
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Created Date: 1988-05-12 Completed Date: 1988-05-12 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 93-102 Citation Subset: IM |
Affiliation:
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Department of Radiology, UCLA School of Medicine, Torrance. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Female Humans Infant Male Osteochondrodysplasias / genetics, radiography* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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HD 22657/HD/NICHD NIH HHS |
| Comments/Corrections | |
Comment In:
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Pediatr Radiol. 1989;20(1-2):136
[PMID:
2602007
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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