Key Diagnostic Finding in a Condition with Variable Clinical Presentations

This is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.

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Main Authors: Anju Sukumaran, John Buchlis
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2013/415463
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author Anju Sukumaran
John Buchlis
author_facet Anju Sukumaran
John Buchlis
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description This is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.
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series Case Reports in Pediatrics
spelling doaj-art-3c3a74edbd6c4d4ab57120bb14dd3bbb2025-08-20T02:08:18ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/415463415463Key Diagnostic Finding in a Condition with Variable Clinical PresentationsAnju Sukumaran0John Buchlis1Department of Pediatric Endocrinology, Women and Children’s Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, USADepartment of Pediatric Endocrinology, Women and Children’s Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, USAThis is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.http://dx.doi.org/10.1155/2013/415463
spellingShingle Anju Sukumaran
John Buchlis
Key Diagnostic Finding in a Condition with Variable Clinical Presentations
Case Reports in Pediatrics
title Key Diagnostic Finding in a Condition with Variable Clinical Presentations
title_full Key Diagnostic Finding in a Condition with Variable Clinical Presentations
title_fullStr Key Diagnostic Finding in a Condition with Variable Clinical Presentations
title_full_unstemmed Key Diagnostic Finding in a Condition with Variable Clinical Presentations
title_short Key Diagnostic Finding in a Condition with Variable Clinical Presentations
title_sort key diagnostic finding in a condition with variable clinical presentations
url http://dx.doi.org/10.1155/2013/415463
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AT johnbuchlis keydiagnosticfindinginaconditionwithvariableclinicalpresentations