| Campomelic dysplasia without overt campomelia. | |
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MedLine Citation:
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PMID: 1342867 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a diagnostic significant sign. |
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Authors:
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U Friedrich; E Schaefer; P Meinecke |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 1 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1992 Jul |
Date Detail:
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Created Date: 1994-02-18 Completed Date: 1994-02-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 172-8 Citation Subset: IM |
Affiliation:
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Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases, Developmental
/
congenital*,
genetics,
radiography Female Humans Infant, Newborn Karyotyping Leg / abnormalities, radiography |
| Comments/Corrections | |
Comment In:
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Clin Dysmorphol. 1993 Apr;2(2):180-2
[PMID:
8281284
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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