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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2017

Hasegawa Kosei, Numakura Chikahiko, Tanaka Hiroyuki, Furujo Mahoko, Kubo Toshihide, Higuchi Yousuke, Yamashita Miho, Tsukahara Hirokazu

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27935852
DOI: 10.1515/jpem-2016-0258

Genes

FBN1

Variants

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