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Zespół Wiedemanna-Rautenstraucha (ang. Wiedemann-Rautenstrauch syndrome, neonatal progeroid syndrome), (pol. syndrom progerii noworodkowej) – rzadki zespół wad wrodzonych.
Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, [1] is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3]
6 sie 2022 · Neonatal Progeroid Syndrome (NPS) is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, low body fat/lipodystrophy, developmental delay, and mild to severe intellectual disability.
6 sie 2024 · Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a rare genetic disorder. It is characterized by an aged appearance at birth (old man look), growth delays that start before birth (prenatal) and continue after birth, as well as a deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy).
6 lis 2019 · Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp...
6 lis 2019 · Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in POLR3A, a gene encoding for a subunit of RNA polymerase III.
10 cze 2011 · Abstract. The Wiedemann–Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases.
