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Case Reports in Pediatrics
Volume 2013, Article ID 415463, 3 pages
Case Report

Key Diagnostic Finding in a Condition with Variable Clinical Presentations

Department of Pediatric Endocrinology, Women and Children’s Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, USA

Received 17 June 2013; Accepted 15 July 2013

Academic Editors: E. Barbi, I. Riaño Galán, and D. I. Zafeiriou

Copyright © 2013 Anju Sukumaran and John Buchlis. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.