Geleophysical dysplasia associated with FBN1 variants and phenotypic variability: A case series in Argentine children.

Abstract

Geleophysical skeletal dysplasia is an extremely rare condition characterized by predominantly acral skeletal involvement with a progressive course, associated with short stature and short limbs. Skin, joint, and organ involvement have been described; cardiorespiratory involvement is fatal. It is inherited in an autosomal dominant or recessive manner and is associated with variants in genes encoding extracellular matrix proteins: ADAMTSL2, LTBP3, and FBN1. This article describes a series of children with FBN1-associated geleophysical dysplasia who were followed up at a pediatric hospital. All presented with severe short stature and short limbs. Radiological findings were consistent in the hands (brachymetacarpal and brachyphalangeal features, notches in the metacarpals, and delayed ossification of the carpus). There was variability in severity and organ involvement indicators. Given the complexity of the condition and the multiple systems involved, there is a need for recommendations regarding a multidisciplinary approach throughout life and the importance of genetic counseling.