Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Christiaan de BruinCourtney FinlaysonMariana F.A. FunariGabriela A. VasquesBruna Lucheze FreireAntônio Marcondes LerárioMelissa AndrewVivian HwaAndrew DauberAlexander A.L. Jorge2026-03-222026-03-22201610.1159/000446476https://doi.org/10.1159/000446476https://andeanlibrary.org/handle/123456789/45277Citaciones: 27This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies.enShort statureMissense mutationMedicineDysplasiaExome sequencingInternal medicineMutationGeneticsTwo Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasiaarticle