Open AccessGeleophysic dysplasia caused by a mutation in FBN1: A case report
Author(s) -
Tao Ying,
Qing Wei,
Xun Chen,
Guangmin g
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i24.7175
Subject(s) - medicine , dysplasia , short stature , methylprednisolone , stenosis , radiology , cardiology , surgery
Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities, progressive hepatomegaly and tracheal stenosis.