作者报道一例在外周血和皮肤成纤维细胞培养物中发现具有四倍体染色体的男婴,出生三个月、身材矮小。患儿后头扁平,眼裂短,耳低位,双手拇指低位,双手、脚蜘蛛状指(趾)等表现与以前报道的6例所见相同,而严重的是生长和神经发育迟缓、唇裂和全身皮肤呈大理石状皮纹等。本例脑超声显示大脑半球小脑发育不全,沟回稀少,心动超声发现有严重的法鲁氏 The authors report a case of a baby boy with a tetraploid chromosome found in cultures of peripheral blood and skin fibroblasts, three months old, short stature. Children with flattened eyes, short eyelids, low ears, low hands and thumbs, hands and feet and spiderlike fingers (toes) and other previously reported performance of 6 cases of the same, but severe growth and neurodevelopmental, cleft lip and body Skin was marbled skin and so on. This case of brain ultrasound showed cerebral hemispheric cerebellar hypoplasia, ditch back sparse, echocardiography found serious Faro