The neonatal progeroid syndrome (Wiedemann–Rautenstrauch): A model for the study of human aging?

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

“…Thirty-two patients with NPS have been described [Arboleda et al, 2007;Rautenstrauch et al, 1994;Castineyra et al, 1992;Petty et al, 1990], although a few of the reported cases had a strikingly different phenotype. Considerable phenotypic heterogeneity is obviously present in this syndrome.…”

Wiedemann–Rautenstrauch syndrome prenatal diagnosis

“…[4][5][6][7] Inheritance pattern is known, however, neither the molecular-genetic mechanisms nor the pathophysiology have clearly been established. 2,3,6,[8][9][10][11] The only paper describing prenatal findings based them on ultrasound biometry; however, these are not specific to the syndrome. 12 There are no other medical case reports available that describe prenatal ultrasound images about WRS structural characteristics.…”

“…The second mechanism belongs to the group of diseases associated with altered transforming growth factor-β signaling, which plays an important role in the induction of cellular senescence. 1,10,11,15 Despite autosomal recessive inherited pattern described for WRS, molecular mechanisms of the disease are not clear. Owing to the similarity of the clinical manifestations with those of Hutchinson-Gilford syndrome (Progeria), LMN A/C gene has been proposed but never confirmed in WRS.…”

“…Actually, WRS genetic mechanism and physiopathology are still unknown. 2,3,6,[8][9][10][11] Recently other candidate genes have been proposed. This gene is not specific to WRS, but it is a mechanism that could be considered; this mechanism has been documented in the progeroid variant of Marfan syndrome with FBN1 mutation.…”

Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Report of three affected sibs

“…Affected patients commonly share signs of premature aging including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth. WRS differs from other progerias because all these changes are present at birth [Rautenstrauch et al, 1994;Arboleda et al, 1997Arboleda et al, , 2007Pivnick et al, 2000;Arboleda and Arboleda, 2005].…”