| Kniest syndrome. | |
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MedLine Citation:
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PMID: 18175850 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 12-year-old male child presented with bilateral visual loss and short stature. He had dysmorphic faces, barrel shaped chest and short limbs with enlarged peripheral joints. In addition he had bilateral retinal detachment with secondary cataract formation. Skeletal survey revealed irregular platyspondyly, hypoplastic femoral head and enlarged epiphysis of long bones with cloud like calcification. Radiological features were diagnostic of Kniest syndrome. The child underwent pars plana lensectomy and a vitreo-retinal surgery with silicon oil infusion in the right eye for retinal detachment. |
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Authors:
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Subramanian Subramanian; Shivanand Gamanagatti; Anindita Sinha; Raju Sampangi |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian pediatrics Volume: 44 ISSN: 0019-6061 ISO Abbreviation: Indian Pediatr Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-01-07 Completed Date: 2008-02-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985062R Medline TA: Indian Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 931-3 Citation Subset: IM |
Affiliation:
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Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar , New Delhi 110 029, India. drsubbusmc@yahoo.co.in |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Diagnosis, Differential Dwarfism / diagnosis*, ultrasonography Fetal Diseases* Humans Male Retinal Detachment* Syndrome Ultrasonography, Prenatal* Vision Disorders |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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