Brachydactyly E: isolated or as a feature of a syndromeReport as inadecuate

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Orphanet Journal of Rare Diseases

, 8:141

First Online: 12 September 2013Received: 10 May 2013Accepted: 03 September 2013


Brachydactyly BD refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E BDE is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism PHP, hypertension with BD or Bilginturan BD HTNB, BD with mental retardation BDMR or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and-or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.

Electronic supplementary materialThe online version of this article doi:10.1186-1750-1172-8-141 contains supplementary material, which is available to authorized users.

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Author: Arrate Pereda - Intza Garin - Maria Garcia-Barcina - Blanca Gener - Elena Beristain - Ane Miren Ibañez - Guiomar Perez de


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