Key Diagnostic Finding in a Condition with Variable Clinical Presentations. (5th August 2013)

• Record Type: Journal Article
• Authors: Sukumaran, Anju; Buchlis, John
• Other Names: Barbi E. Academic Editor.; Riaño Galán I. Academic Editor.; Zafeiriou D. I. Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2013(2013)
• Publication Date: 2013-08-05
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2013/415463
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : 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.