| Cornelia de Lange syndrome--photo essay. | |
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MedLine Citation:
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PMID: 8281279 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by developmental delay, retardation of growth, limb reduction abnormalities and dysmorphic facial features. With the exception of one case with a de novo translocation (Ireland et al., 1991) there are no consistent chromosomal abnormalities or biochemical markers. Diagnosis is therefore dependent on the recognition of the distinctive facial features. In this photo essay we focus on those features which are most specific to the syndrome and highlight possible diagnostic pitfalls. |
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Authors:
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M Ireland; J Burn |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 2 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1994-02-17 Completed Date: 1994-02-17 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: 151-60 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool De Lange Syndrome / pathology* Face / abnormalities Female Humans Infant Infant, Newborn Limb Deformities, Congenital Male Photography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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