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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

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Volume 26, Issue 7-8


Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism

Bülent Hacıhamdioğlu / Mutluay Arslan / Erkan Sarı / Kemal Kurtçu / Ediz Yesilkaya
Published Online: 2013-05-06 | DOI: https://doi.org/10.1515/jpem-2012-0375


Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype without any hormone resistance. Diagnosis of BDMR is based on the detection of the deletion on the long arm of chromosome 2. Diagnosis can usually be made with karyotype analysis but sometimes chromosomal deletion can only be detected by fluorescent in situ hybridization (FISH) screening. We report a patient with the AHO phenotype whose karyotype was normal but who was diagnosed with BDMR with FISH analysis showing 2q deletion. In pediatric endocrinology practice, in patients with AHO phenotype but without parathormone (PTH) resistance, BDMR should be considered. For the diagnosis of BDMR, the subtelomeric region of chromosome 2 should be screened for deletion by FISH analysis even in patients with normal karyotypes.

Keywords: Albright hereditary osteodystrophy; brachydactyly mental retardation syndrome; pseudopseudohypoparathyroidism; 2q37 deletion


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About the article

Corresponding author: Bülent Hacıhamdioğlu, MD, Department of Pediatric Endocrinology, Gulhane Military Medical Faculty, Ankara, Turkey, Phone: +90 03123041585, Fax: +90 0312304 438

Received: 2012-11-24

Accepted: 2013-03-24

Published Online: 2013-05-06

Published in Print: 2013-08-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 26, Issue 7-8, Pages 793–795, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0375.

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