| Marfan syndrome in a Triple-X girl: a new association? | |
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MedLine Citation:
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PMID: 20415197 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. AIM: to report an unusual association between Triple X and Marfan disease in a girl. CASE REPORT: A case of a triple X girl with craniofacial dysmorphy and skeletal anomalies, who did feat Marfan criteria by age, is presented. CONCLUSION: To the best of our knowledge this association has never been reported. Some clinical features are common between Triple X and Marfan disease so a careful follow-up is needed and investigations should be performed in these patients because Marfan syndrome may be incomplete in early age. |
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Authors:
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Faten Tinsa; Lotfi Karboul; Jalel Chekib; Samia Hamouda; Lamia Ben Jemaa; Khadija Boussetta; Souad Bousnina |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: La Tunisie m?dicale Volume: 88 ISSN: 0041-4131 ISO Abbreviation: Tunis Med Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-04-26 Completed Date: 2010-06-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0413766 Medline TA: Tunis Med Country: Tunisia |
Other Details:
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Languages: eng Pagination: 203-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics B, Children's Hospital of Tunis. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Atrophy / radiography Brain / pathology Chromosomes, Human, X / genetics* Consanguinity Female Humans Infant Marfan Syndrome / genetics* Sex Chromosome Aberrations |
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