Geleophysical dysplasia associated with FBN1 variants and phenotypic variability: A case series in Argentine children.
Sofía L Melgarejo, Rosario Ramos Mejía, Mayra Arbelo et al.
✦ AI-curated · Sources linked
Case in brief
A series of children followed at a pediatric hospital had FBN1-associated geleophysical skeletal dysplasia. All had severe short stature and short limbs. Hand radiographs consistently showed brachymetacarpal and brachyphalangeal features, metacarpal notches, and delayed carpal ossification. Indicators of disease severity and organ involvement varied among the children. The report highlights the multisystem complexity of the condition and the need for lifelong multidisciplinary care and genetic counseling.
What made this case unusual
Despite consistent hand radiographic findings, severity and indicators of organ involvement varied among children with FBN1-associated disease.
Diagnostic / clinical pearl
In a child with severe short stature and short limbs, the combination of metacarpal and phalangeal shortening, metacarpal notches, and delayed carpal ossification supports recognition of geleophysical dysplasia; assess for variable organ involvement.
Why it matters
The multisystem nature of the condition supports multidisciplinary follow-up throughout life and genetic counseling.