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本文分析1例Smith-Magenis综合征患儿在耳鼻咽喉方面的临床特点。患儿，女，9岁，因"反复咽痛约1个月"就诊于吉林大学第二医院。平日睡眠周期短，动作多，说话声音嘶哑。体检见身体多个部位发育异常包括独特的面部特征如方脸、眼睛深陷、下颚偏大、鼻梁塌陷、唇外翻、下颌前突，短指/趾畸形，身材矮小，睡眠障碍，刻板行为发育迟缓、智力低下，语言能力发育迟滞及隐性脊柱裂。常规染色体核型为46，XX，高分辨染色体核型分析17号染色体短臂p11.2存在大小约3.5M缺失，分子核型为46，XX，arr17p11.2（16705818-20178312）*1。因其发病率低，在耳鼻咽喉方面极少报道，本文通过对所收治的1例SMS患儿的全身特点及耳鼻咽喉方面的特征进行分析，以期提高对该病的认知。.
This article analyzes the clinical characteristics of otolaryngology in a child with Smith-Magenis syndrome. The patient, female, 9 years old, was admitted to the Second Hospital of Jilin University because of "repeated sore throat for about 1 month". On weekdays, the sleep cycle is short, there are many movements, and the voice is hoarse. Physical examination revealed developmental abnormalities in multiple parts of the body including distinctive facial features such as square face, sunken eyes, enlarged jaw, collapsed nasal bridge, lip eversion, mandibular protrusion, brachydactyly, short stature, sleep disturbance, stereotyped behavior Developmental delay, mental retardation, language retardation and spina bifida. The conventional karyotype is 46, XX. The high-resolution karyotype analysis shows that there is a deletion of about 3.5M in the short arm p11.2 of chromosome 17. The molecular karyotype is 46, XX, arr17p11.2 (16705818-20178312)*1. Due to its low incidence, it is rarely reported in the field of ENT. This article analyzes the systemic and ENT characteristics of a patient with SMS in order to improve the awareness of the disease. .
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