Neonatal progeroid syndrome
Neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome is an autosomal recessive progeroid syndrome. Is characterized by low birth weight an old-born baby appearance, rare hair, elongated nose, unexplained cranial stitches, a characteristic facial dysmorphia associated with fat loss, and mild mental retardation. The disease results from damage to the FBN1 gene.
There have been over 51 cases of NPS.[1] Rarely is the case of adulthood and teenage age, the average life expectancy of NPS is 7 months. The illness syndrome was first described in 1979 as a sickness syndrome by Hans-Rudolf Wiedemann, who previously described two cases of the disease: one in 1966 and another in 1977. Thomas Rautenstrauch in 1977 recognized the syndrome of two siblings as Progeria.
NPS is associated with abnormalities in bone maturation, lipid and metabolism. Is very rare in less than 1 in million births.
Related pages
References
- ↑ Paolacci, Stefano; Bertola, Debora; Franco, José; Mohammed, Shehla; Tartaglia, Marco; Wollnik, Bernd; Hennekam, Raoul (26 April 2017). "Wiedemann-Rautenstrauch syndrome: A phenotype analysis". American Journal of Medical Genetics. Part A. 173 (7): 1763–1772. doi:10.1002/ajmg.a.38246. PMID 28447407. S2CID 20462288 – via CiteULike.