Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”

Abstract

Our results confirm the variability of this syndrome, especially at the neurological level. However, many etiological and pathological aspects of this syndrome remain unknown.

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

“…2). Clinical findings clearly delineate a WRS phenotype, very similar to that reported by others [ Rautenstrauch and Snigula, 1977;Wiedemann, 1979;Rautenstrauch et al, 1994;Arboleda et al, 1997;Arboleda and Arboleda, 2005]. To date, this is the first report with three affected sibs confirming an autosomal recessive inheritance.…”

“…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].…”

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.…”

“…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.…”

“…All these findings permite to conclude that this case correspond to the Wiedemann-Rautenstrauch syndrome (WRS; online mendelian inheritance in man: 264090) or neonatal progeroid syndrome. 1,2 Neonatal respiratory distress was successfully resolved after 24 h. Indirect hiperbilirrubinemia was treated with phototherapy. The baby was discharged once adecuate suction level was reached 40 days after birth weighing 1925 g. At 3 weeks buttocks upper fat was evident.…”