Wiedemann–Rautenstrauch syndrome
| Wiedemann–Rautenstrauch syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E34.8 |
| OMIM | 264090 |
| DiseasesDB | 32103 |
| MeSH | C536423 |
Wiedemann–Rautenstrauch (WR) syndrome [ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx], also known as neonatal progeroid syndrome,[1] is an autosomal recessive progeroid syndrome.
WR was first reported by Rautenstrauch and Snigula in 1977;[2] and the earliest reports made subsequently have been by Wiedemann in 1979,[3] by Devos in 1981,[4] and Rudin in 1988.[5] There have been over 30 cases of WR.[6]
WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism.[7] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin (lipoatrophy), delayed tooth eruption, abnormal hair pattern (hypotrichosis), beaked nose, mild to severe mental retardation and dysmorphism.[8]
References
- ↑ "WIEDEMANN RAUTENSTRAUCH SYNDROME". NORD Rare Disease Report Abstract. Retrieved 16 March 2013.
- ↑ Rautenstrauch, T; Snigula, F; Krieg, Thomas; Gay, Steffen; Müller, P. K. (1977). "Progeria: A cell culture study and clinical report of familial incidence". European journal of pediatrics. 124 (2): 101–11. doi:10.1007/BF00477545. PMID 319005.
- ↑ Wiedemann, HR (1979). "An unidentified neonatal progeroid syndrome: Follow-up report". European journal of pediatrics. 130 (1): 65–70. doi:10.1007/BF00441901. PMID 569581.
- ↑ Devos, EA; Leroy, JG; Frijns, JP; Van Den Berghe, H (1981). "The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents". European journal of pediatrics. 136 (3): 245–8. doi:10.1007/BF00442991. PMID 7262096.
- ↑ Rudin, C.; Thommen, L.; Fliegel, C.; Steinmann, B.; Bühler, U. (1988). "The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann–Rautenstrauch)". European Journal of Pediatrics. 147 (4): 433–8. doi:10.1007/BF00496430. PMID 3294017.
- ↑ "Wiedemann–Rautenstrauch syndrome". Orphanet. Retrieved 16 March 2013.
- ↑ Arboleda, H; Quintero, L; Yunis, E (1997). "Wiedemann–Rautenstrauch neonatal progeroid syndrome: Report of three new patients". Journal of Medical Genetics. 34 (5): 433–7. doi:10.1136/jmg.34.5.433. PMC 1050956
. PMID 9152846. - ↑ Toriello, HV (1990). "Wiedemann–Rautenstrauch syndrome". Journal of Medical Genetics. 27 (4): 256–7. doi:10.1136/jmg.27.4.256. PMC 1017029. PMID 2325106.