| Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome. | |
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MedLine Citation:
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PMID: 20042164 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously. |
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Authors:
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Ahmad Usaid Qureshi; Yasser Masood; Agha Shabbir Ali |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP Volume: 19 ISSN: 1022-386X ISO Abbreviation: J Coll Physicians Surg Pak Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-12-31 Completed Date: 2010-04-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606447 Medline TA: J Coll Physicians Surg Pak Country: Pakistan |
Other Details:
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Languages: eng Pagination: 803-5 Citation Subset: IM |
Affiliation:
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Department of Paediatric Medicine, Unit-2, Children's Hospital and Institute of Child Health, Lahore. qureshiahmad@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Body Height Child Child, Preschool Developmental Disabilities / etiology Ellis-Van Creveld Syndrome / complications, diagnosis* Humans Lens Subluxation / etiology Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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