| Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. | |
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MedLine Citation:
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PMID: 19358626 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature. |
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Authors:
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Mana Taweevisit; Jitsupa Treetipsatit; Patou Tantbirojn; Paul Scott Thorner |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: 12 ISSN: 1093-5266 ISO Abbreviation: Pediatr. Dev. Pathol. Publication Date: 2009 Sep-Oct |
Date Detail:
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Created Date: 2009-11-03 Completed Date: 2009-12-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 404-9 Citation Subset: IM |
Affiliation:
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Department of Pathology, Faculty of Medicine, Chulalongkorn University, 1873 King Rama IV Street, Pathumwan, Bangkok, Thailand. dr.mana4@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Cor Triatriatum / complications*, pathology* Dandy-Walker Syndrome / complications, pathology Humans Hypoplastic Left Heart Syndrome / complications*, pathology* Kidney Diseases, Cystic / complications, congenital, pathology Male Polydactyly / complications Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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