| Cerebro-facio-thoracic dysplasia: expanding the phenotype. | |
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MedLine Citation:
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PMID: 17351359 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas of the optic nerve, ptosis, small conical teeth and severe left-sided talipes. He also has hypermobile joints, especially in his hands and anterior subluxation of the shoulders. The second patient has hypodensity of the grey matter on magnetic resonance imaging, which is the second report of this finding in cerebro-facio-thoracic dysplasia. In addition, he has hypoplasia of the corpus callosum. These cases illustrate the expanding phenotype of this condition, and support the hypothesis that this is an autosomal recessive condition. |
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Authors:
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Deirdre Cilliers; Yasemin Alanay; Koray Boduroglu; Eda Utine; Ergül Tunçbilek; Jill Clayton-Smith |
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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 Apr |
Date Detail:
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Created Date: 2007-03-12 Completed Date: 2007-05-18 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: 121-5 Citation Subset: IM |
Affiliation:
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Academic Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, University of Manchester, Manchester, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases, Developmental
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pathology,
radiography Child, Preschool Craniofacial Abnormalities / pathology* Female Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Phenotype Radiography, Thoracic Thoracic Diseases / pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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