| Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome. | |
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MedLine Citation:
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PMID: 20177378 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5), goosecoid homeobox (GSC) and runt-related transcription factor 2 (RUNX2) [formerly known as core-binding factor (CBFA1)]. We report an infant with typical features of CCMS who, on prenatal ultrasound, was found to have severe micrognathia. We present the first image by three-dimensional computed tomography of posterior rib-defect, and we exclude mutations of the MYF5, GSC, RUNX2, and TCOF1 genes in our patient. Further molecular studies are needed to evaluate the cause of CCMS. |
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Authors:
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Pen-Hua Su; Jia-Yuh Chen; Chin-Lung Chiang; Yan-Yan Ng; Suh-Jen Chen |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical dysmorphology Volume: 19 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-03-10 Completed Date: 2010-05-26 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: 51-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
radiography Adult Core Binding Factor Alpha 1 Subunit / genetics* Craniofacial Abnormalities / genetics*, radiography Female Goosecoid Protein / genetics* Humans Infant Infant, Newborn Male Mutation / genetics* Myogenic Regulatory Factor 5 / genetics* Nuclear Proteins / genetics* Phosphoproteins / genetics* Pregnancy Radiography, Thoracic Skull / radiography Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Core Binding Factor Alpha 1 Subunit; 0/GSC protein, human; 0/Goosecoid Protein; 0/MYF5 protein, human; 0/Myogenic Regulatory Factor 5; 0/Nuclear Proteins; 0/Phosphoproteins; 0/RUNX2 protein, human; 0/TCOF1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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