Bardet-Biedl综合征(附1例报告并文献复习)

One case of Bardet-Biedl syndrome report and literature review

目的探讨Bardet-Biedl综合征(BBS)的临床特点及发病机制。方法分析1例女性BBS患儿的病史资料和辅助检查报告,并进行文献复习。结果患儿出生即发现"多指(趾)畸形",5年前发现"先天性视网膜色素变性",6年前发现体重增加过快。体格检查:反应迟钝,体重59 kg,腹壁皮下脂肪3 cm,外阴未发育。辅助检查:左手腕骨片骨龄大致正常,腹部B超示脂肪肝,垂体CT未见明显异常。结论提高对BBS的认识,注意鉴别诊断,避免漏诊误诊。

Objective To explore the clinical characteristics and pathogenesis of Bardet - Biedl syndrome （BBS）. Methods To analyse the data of a girl with BBS,including her intact medical history materials and auxiliary examination reports and combine with literature review. Results An 11 - year - old girl with polydactyly, she had found ＂tapotoretinal degeneration＂ five years, and found body weight gain quickly six years. Physical examination： react dullness, body weight 59 kg, abdominal adipose layer 3 cm, and juvenile external genitalia. Auxiliary examination： adiposis hepatica under type - B ultrasonic screening. Conclusion Ought to enhance the understanding of the BBS, pay attention to differential diagnosis and avoid missed diagnosis and misdiagnosis.