Smith-Magenis综合征是一种具有17号染色体中间缺失即del(17)(p11.2p11.2)的多发畸形综合征。自从1984年Patil和Bartley首次报道以来,到现在至少已报告了26名患者,他们的年龄为3个月～65岁。作者报告4例患Smith-Magenis综合征的儿童(2例男孩,2例女孩)的临床与细胞遗传学所见。4例患者均有第17号染色体中间缺失del(17)(p11.2p11.3)。这些患者的临床表现包括:短头畸形、颜面中部发育不全、凸颌、上唇外翻、中度智力发育迟缓 Smith-Magenis syndrome is a multiple deformity syndrome with a mid-17 chromosome deletion, del (17) (p11.2p11.2). Since Patil and Bartley first reported in 1984, up to now, at least 26 patients have been reported, and their ages range from 3 months to 65 years. The authors report clinical and cytogenetic findings in 4 children (2 boys, 2 girls) with Smith-Magenis syndrome. All 4 patients had a deletion of del (17) on chromosome 17 (p11.2p11.3). The clinical manifestations of these patients include: short-headed deformity, middle facial hypoplasia, maxillary protraction, valgus upper lip, moderate mental retardation