| The fifth female patient with Myhre syndrome: further delineation. | |
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MedLine Citation:
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PMID: 18388781 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced. |
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Authors:
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Luis E Becerra-Solano; Manuel Díaz-Rodriguez; Jose A Nastasi-Catanese; Jose J Toscano-Flores; Oscar Bañuelos-Robles; Luis E Figuera; Esmeralda Matute; Maria de Lourdes Ramírez-Dueñas |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 17 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-04-04 Completed Date: 2008-05-27 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: 113-7 Citation Subset: IM |
Affiliation:
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Genetics Division, Biomedical Research Center of the West-Mexican Social Security Institute, Guadalajara, Mexico. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology*,
radiography Adolescent Body Size Bone and Bones / abnormalities*, radiography Craniofacial Abnormalities / pathology*, radiography Facies* Female Humans Limb Deformities, Congenital / pathology*, radiography Mental Retardation / diagnosis Puberty, Precocious / diagnosis Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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