| A variant or a "new" postaxial acrofacial dysostosis syndrome. | |
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MedLine Citation:
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PMID: 18286304 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome. |
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Authors:
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Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-02-20 |
Journal Detail:
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Title: European journal of pediatrics Volume: 167 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2008-10-20 Completed Date: 2009-02-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 1385-8 Citation Subset: IM |
Affiliation:
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Orthopaedic and Traumatology Division, Children's University Hospital, Krakow, Poland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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radiography* Adolescent Craniofacial Dysostosis / radiography* Ear, External / abnormalities Humans Limb Deformities, Congenital / radiography* Male Mandibulofacial Dysostosis / radiography Micrognathism / radiography Phenotype Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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