| Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. | |
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MedLine Citation:
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PMID: 10602117 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome. |
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Authors:
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X Y Han; S S Wu; D H Conway; B R Pawel; H H Punnett; R A Martin; J P de Chadarevian |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 90 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Jan |
Date Detail:
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Created Date: 2000-02-29 Completed Date: 2000-02-29 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 45-8 Citation Subset: IM |
Copyright Information:
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Copyright 2000 Wiley-Liss, Inc. |
Affiliation:
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Department of Pathology and Laboratory Medicine, MCP Hahnemann University School of Medicine, and St. Christopher's Hospital for Children, Philadelphia, PA 19134, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Female Focal Dermal Hypoplasia / genetics, pathology* Humans Infant, Newborn |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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