Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G
Department of Paediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria, Italy.
J Med Genet. 1993 Oct;30(10):877-9. doi: 10.1136/jmg.30.10.877.
The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.
马歇尔-史密斯综合征的特征为生长过度、骨骼成熟加速和面部畸形特征，常伴有不同程度的智力迟钝。大多数报道的患者在生命的头三年死亡，主要原因是呼吸问题。我们描述了一名患有这种罕见综合征的5岁患者，他患有视神经萎缩和胼胝体发育不全，但迄今为止没有呼吸问题。这一观察结果强调了马歇尔-史密斯综合征的临床变异性，并表明预期寿命可能会延长。
