| A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. | |
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MedLine Citation:
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PMID: 12402000 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum. |
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Authors:
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E Kajantie; P Ammälä; R Salonen |
Publication Detail:
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Type: Letter |
Journal Detail:
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Title: Clinical dysmorphology Volume: 11 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2002 Oct |
Date Detail:
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Created Date: 2002-10-28 Completed Date: 2003-03-12 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: 299-301 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
/
genetics,
pathology*,
ultrasonography Aborted Fetus / abnormalities Brain / abnormalities* Face / abnormalities* Female Humans Male Megacolon / genetics, pathology*, ultrasonography Phenotype Pregnancy Radius / abnormalities Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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