Document Detail

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.
MedLine Citation:
PMID:  10602117     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  90     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Jan 
Date Detail:
Created Date:  2000-02-29     Completed Date:  2000-02-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  45-8     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Department of Pathology and Laboratory Medicine, MCP Hahnemann University School of Medicine, and St. Christopher's Hospital for Children, Philadelphia, PA 19134, USA.
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MeSH Terms
Abnormalities, Multiple / pathology*
Focal Dermal Hypoplasia / genetics,  pathology*
Infant, Newborn

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