| Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. | |
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MedLine Citation:
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PMID: 17990920 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/FREM2 genes may cause Fraser syndrome. |
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Authors:
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Ann De Jong; Miranda Warren; William Rehrauer; Josephine Harter; Melissa Baraboo; Sunita Chandra; Richard M Pauli; Don B Singer; Michael K Fritsch |
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: 11 ISSN: 1093-5266 ISO Abbreviation: Pediatr. Dev. Pathol. Publication Date: 2008 May-Jun |
Date Detail:
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Created Date: 2008-07-03 Completed Date: 2008-08-12 Revised Date: 2008-09-10 |
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: 220-5 Citation Subset: IM |
Affiliation:
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Department of Family Medicine, University of North Dakota-Minot, 1201 11th Avenue SW, Minot, ND 58701, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Autopsy Extracellular Matrix Proteins / genetics Eyelids / abnormalities* Female Humans Infant, Newborn Pedigree Phenotype* Pregnancy Siblings Syndactyly / genetics* Syndrome Ultrasonography, Prenatal |
| Chemical | |
Reg. No./Substance:
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0/Extracellular Matrix Proteins; 0/FRAS1 protein, human; 0/FREM2 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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