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Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.
Medicine (Baltimore)
December 2024
Xuzhou Clinical College of Xuzhou Medical University, Xuzhou Central Hospital, Xuzhou, China.
Rationale: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action.
Patient Concerns: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes.
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in and a literature review.
Front Pediatr
July 2024
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Acromelic dysplasia caused by mutation includes acromicric dysplasia (AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three diseases share severe short stature and brachydactyly. Besides phenotypic similarity, there is a molecular genetic overlap among them, as identical gene mutations have been identified in patients with AD, GD2, and WMS2.
View Article and Find Full Text PDFGeleophysic dysplasia and Weill-Marchesani syndrome: a possible common gene.
Ophthalmic Genet
October 2024
Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.
Background: Geleophysic dysplasia (GD) and Weill-Marchesani syndrome (WMS) are two rare genetic disorders that are classified as acromelic dysplasias and have many common features that overlap clinically and genetically in some patients. Both diseases are characterized by acromelic features, including short stature, brachydactyly, joint limitations, and cardiac involvement. WMS is distinguished from GD mainly by ocular abnormalities, including high myopia, microspherophakia, ectopia lentis, and glaucoma and the absence of the life-threatening airway stenosis and early lethality.
View Article and Find Full Text PDFPathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
J Med Genet
April 2024
U1148 LVTS, INSERM, Paris, Île-de-France, France
Background: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as 'the mirror image' of MFS. The numerous pathogenic variants identified in MFS are located all along the gene and lead to the same final pathogenic sequence.
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