Geleophysic Dysplasia Associated With <scp>FBN1</scp> Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face. Genetic analysis revealed a heterozygous missense pathogenic variant c.5284G&gt;A (p.(Gly1762Ser)) in exon 42 of the FBN1 gene, previously reported as causative of GD. Given the condition's under‐recognition, this case report highlights key diagnostic features and the approach to differential diagnosis in a child with short stature, emphasizing the need for early identification. Furthermore, the use of recombinant human growth hormone (rhGH), initiated after evidence of a partial isolated growth hormone deficiency, did not lead to significant improvement, but its discontinuation was associated with worsening growth, which improved again after reintroduction. This paradoxical response raises important questions about rhGH use in GD and underlines the need for continued auxological and cardiac monitoring and individualized treatment strategies.