[HTML][HTML] Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases
P Marzin, B Thierry, A Dancasius, A Cavau, C Michot… - Genetics in …, 2021 - Elsevier
Purpose Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by
short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory
involvement can result in poor prognosis. Dominant variants in the FBN1 and LTBP3 genes
are responsible for AD or GD, whereas recessive variants in the ADAMTSL2 gene are
responsible for GD only. The aim of this study was to define the natural history of these
disorders and to establish genotype–phenotype correlations. Methods This monocentric …
short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory
involvement can result in poor prognosis. Dominant variants in the FBN1 and LTBP3 genes
are responsible for AD or GD, whereas recessive variants in the ADAMTSL2 gene are
responsible for GD only. The aim of this study was to define the natural history of these
disorders and to establish genotype–phenotype correlations. Methods This monocentric …