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Wiedemann–Rautenstrauch syndrome
Wiedemann–Rautenstrauch (WR) syndrome (:ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx), also known as neonatal progeroid syndrome,〔(【引用サイトリンク】url=http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1104/viewAbstract )〕 is an autosomal recessive progeroid syndrome.
WR was first reported by Rautenstrauch and Snigula in 1977; and the earliest reports made subsequently have been by Wiedemann in 1979, by Devos in 1981, and Rudin in 1988. There has been over 30 cases of WR.〔(【引用サイトリンク】url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 )〕
WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. 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.
==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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