非颅缝早闭综合征的MSCT诊断及鉴别诊断

MSCT Diagnosis and Differential Diagnosis of Non-craniosynostosis Syndromes

目的:探讨MSCT在非颅缝早闭综合征中的诊断及鉴别诊断价值,并提出诊断标准。方法:回顾性分析南京医科大学附属儿童医院2015年10月-2016年9月101例非颅缝早闭综合征的MSCT表现,后处理方法包括多平面重组(MPR)及容积再现(VR)。结果:101例非颅缝早闭综合征中,男48例,女53例,年龄最小2天,最大6岁。其共同特点是面骨发育不良,且不伴颅缝早闭,其中,Pierre-Robin综合征(PRS)78例:下颌骨短小且后缩,以体部为著,多数伴舌后坠及相应气道狭窄;Treacher-Collins综合征(TCS)6例:双侧面骨发育不良,以颧骨为著;第一、二鳃弓综合征(FSBAS)15例:单侧14例,双侧1例,患侧面骨不同程度发育不良,以下颌支为著,大口畸形和面部皮赘多见,腮腺、咬肌不同程度发育不良;Goldenhar综合征(GS)2例:左右侧各1例,单侧面骨及软组织发育不良,而且合并颈椎畸形。PRS腭裂最多见,TCS次之,FSBAS及GS少见;PRS未见耳畸形,其余三种多见。结论:MSCT在非颅缝早闭综合征的诊断及鉴别诊断中具有重要作用,能为临床提供全面可靠的影像资料。

Purpose： To investigate the value of MSCT in the diagnosis and differential diagnosis of non- craniosynostosis syndromes, and to propose the diagnostic criteria. Methods： MSCT features of 101 cases of non- craniosynostosis syndromes in the Children＇s Hospital of Nanjing Medical University from October 2015 to September 2016 were retrospectively analyzed. Post-processing methods included multi-planar reconstruction （MPR） and volume rendering （VR）. Results： Among the 101 cases of non-craniosynostosis syndromes, 48 were males and 53 were females, their ages ranged from 2 days to 6 years. In the 101 cases of non-craniosynostosis syndromes, the common feature was dysostosis of facial bones, and without craniosynostosis. These cases including 78 cases of Pierre-Robin syndrome （PRS）： mandible hypoplasia and retrusion, especially in the body of mandible, usually accompanied with glossoptosis and airway stenosis, six cases of Treacher-Collins syndrome （TCS）： bilateral facial bones dysplasia, especially in the zygoma, fifteen cases of the first and second branchial arch syndrome （FSBAS）： unilateral in 14 cases and bilateral in 1 case, the ipsilateral facial bones dysplasia, especially in the mandible ramus, transverse facial cleft and auricular tags were very common, parotid gland and masseter dysplasia, two cases of Goldenhar syndrome （GS）： 1 case each on the leit and right, unilateral dysplasia of face bones and soft tissues, with cervical spine deformity. PRS was most common in the cleft palate, followed by TCS, while FSBAS and GS were rare. PRS was with no ear malformation, while the other three were frequent with. Conclusion： MSCT plays an important role in the diagnosis and differential diagnosis of non- craniosynostosis syndromes. It can provide comprehensive and reliable imaging information for the clinical diagnosis.