Livet M O, Moncla A, Delobel B, Croquette M F, Philip N, Vallée L
Service de neurologie pédiatrique, hôpital d'enfant de la Timone, Marseille, France.
Arch Pediatr. 1997 Dec;4(12):1231-7. doi: 10.1016/s0929-693x(97)82615-2.
Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophthalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.
史密斯-马吉尼斯综合征由17p11.2缺失引起。它伴有智力发育迟缓、面部畸形和短指畸形；70%的病例存在异常行为和严重睡眠问题。该综合征可能诊断不足，因为面部异常较轻，且多动和自我伤害等行为问题较为突出，导致被诊断为精神疾病。然而，这些行为问题具有足够的特征，可据此诊断该综合征并寻找17p11.2微缺失。耳鼻咽喉科、眼科、心脏和肾脏异常可能与之相关，对其进行评估很有必要。史密斯-马吉尼斯综合征被认为是一种邻接基因综合征。相关基因已被定位并分离到关键区域，但其在该综合征发病机制中的作用仍不清楚。
