Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany.
Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587.
We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity.
拱形、浓密的眉毛,眼距过宽,睑裂狭窄,宽鼻梁和鼻尖,长人中,薄上唇,手脚短粗,多毛症,严重的精神运动发育迟缓。这些患者扩展了 Wiedemann-Steiner 综合征的表型,并将其划定为一种实体。