| Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? | |
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MedLine Citation:
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PMID: 17159509 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait. |
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Authors:
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José Elías García-Ortiz; Diana García-Cruz; Ingrid Patricia Dávalos; Zamira Nazará; María Olga García-Cruz; Víctor Castañeda; Leonel Gutiérrez-Mendivil; Jose Sánchez-Corona |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 16 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2007 Jan |
Date Detail:
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Created Date: 2006-12-12 Completed Date: 2007-01-25 Revised Date: - |
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: 15-20 Citation Subset: IM |
Affiliation:
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Divisions of Genetics, University of Guadalajara; Guadalajara, Mexico. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology* Adolescent Child Craniofacial Dysostosis / genetics, pathology Female Genes, Recessive* Heart Atria / pathology Heart Defects, Congenital / genetics, pathology Humans Limb Deformities, Congenital / genetics, pathology Male Mental Retardation / genetics, pathology Microcephaly / genetics, pathology Pedigree Quantitative Trait Loci* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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