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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
ISSN
2191-0251
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Volume 24, Issue 9-10

Issues

SADDAN syndrome

K.V.S. Hari Kumar / Altamash Shaikh
  • Department of Endocrinology, PD Hinduja Hospital and Medical Research Centre, Mumbai 400016, India
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ruchita Sharma / Pitamber Prusty
Published Online: 2011-08-11 | DOI: https://doi.org/10.1515/JPEM.2011.290

Abstract

Achondroplasia is the most common type of short-limbed dwarfism in children resulting from fibroblast growth factor receptor (FGFR) mutations. Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. Acanthosis nigricans is associated with these skeletal dysplasias and we recently encountered a skeletal dysplasia along with acanthosis nigricans in a young boy. We report the case due its unusual nature affecting one of twin brothers.

Keywords: acanthosis nigricans; achondroplasia; skeletal dysplasia

About the article

Corresponding author: K.V.S. Hari Kumar, Department of Endocrinology, Command Hospital, Lucknow 226002, Uttar Pradesh, India Phone: +919454674679, Fax: +915222851058


Received: 2011-05-26

Accepted: 2011-06-08

Published Online: 2011-08-11

Published in Print: 2011-10-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 24, Issue 9-10, Pages 851–852, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.290.

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