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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, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
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2191-0251
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Volume 30, Issue 1

Issues

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features

Kosei Hasegawa / Chikahiko Numakura / Hiroyuki Tanaka / Mahoko Furujo / Toshihide Kubo / Yousuke HiguchiORCID iD: http://orcid.org/0000-0001-5253-6569 / Miho Yamashita / Hirokazu Tsukahara
  • Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-12-09 | DOI: https://doi.org/10.1515/jpem-2016-0258

Abstract

Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome. In the present study, we report and compare the highly varied clinical and radiological features of three Japanese AD/GD children. Our patients, harboring FBN1 mutations p.Tyr1699Cys, p.Ser1750Arg, and p.Gly1762Ser, shared common clinical symptoms such as severe short stature, acromelia and hepatomegaly. Short tubular bones of hands and deformities of femur heads are common radiological features of our patients.

Keywords: acromelia; hepatomegaly; short stature

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About the article

Corresponding author: Kosei Hasegawa, MD, PhD, Department of Pediatrics, Okayama University Hospital, 2-5-1, Shikata-cho, Kita-ku, Okayama 700-8558, Japan, Phone: +81-86-235-7249, Fax: +81-86-221-4745


Received: 2016-06-30

Accepted: 2016-11-03

Published Online: 2016-12-09

Published in Print: 2017-01-01


Author contributions: All the authors have accepted responsibility for the entire content of this submitted article and approved submission. KH designed the study design, all authors collected clinical data from patients, KH and H. Tanaka drafted the article, and H. Tanaka and H. Tsukahara revised the article content.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 1, Pages 117–121, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0258.

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