Bergmann C, Morlot S, Ptok M
Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule, 30625, Hannover.
HNO. 2007 Aug;55(8):644-6. doi: 10.1007/s00106-006-1430-7.
The Smith-Magenis syndrome (SMS) is a distinct multiple congenital anomaly caused by an interstitial deletion of the chromosome 17 p11.2. The phenotype includes dysmorphic features, mental retardation, speech delay, signs of peripheral neuropathy, and neurobehavioral problems. Also sensorineural and conduction hearing loss are described. In children with speech delay the physician should consider a genetic or syndromal disease.
史密斯-马吉尼斯综合征（SMS）是一种由17号染色体p11.2区域间质缺失引起的独特的多发性先天性异常。其表型包括畸形特征、智力发育迟缓、语言发育迟缓、周围神经病变体征和神经行为问题。也有感觉神经性和传导性听力损失的描述。对于语言发育迟缓的儿童，医生应考虑遗传或综合征性疾病。
