在VACTERL协会和单边的Lambdoid关节突症
Sarut Chaisrisawadisuk1, Thannicha Tunkijjaroen1, Achara Sathienkijkanchai2
1Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
概括
本案例研究详细介绍了一例罕见的lambdoid骨突症,该病例发生在患有VACTERL关联的儿童身上. 早期的手术修复显著改善了头部形状和内体积,突出了多学科护理的需要.
科学领域:
- 儿科手术 儿科手术
- 遗传学 是一个遗传学.
- 头骨面部异常 头骨面部异常
背景情况:
- VACTERL关联是一种复杂的综合征,具有多种先天性异常.
- 头骨突症,头骨的过早融合,通常与VACTERL的关联不相关.
- 这一案例呈现了这些条件的罕见重叠.
研究的目的:
- 报告一名患有VACTERL关联症的患者患有兰布状关节缩症的独特病例.
- 强调早期诊断和手术干预对这一群体的头面部异常的重要性.
- 建议潜在的遗传联系需要进一步调查.
主要方法:
- 一个2岁的泰国男孩被诊断出患有VACTERL的病例报告.
- 在12个月后对后部头症和面部不对称性的临床评估.
- 诊断成像 (CT/MRI) 确认左侧单侧羊毛状突.
- 手术干预:在15个月后重塑后部头骨.
主要成果:
- 成功的手术纠正了左边的羊毛状突.
- 手术后大脑形态和内体积的显著改善.
- 患者实现了适合年龄的发展里程碑,并留下了轻微的面部不对称性.
结论:
- 在VACTERL协会中,Lambdoid骨突变也可能发生,尽管很少见.
- 早期诊断和多学科管理对于最佳结果至关重要.
- 这种关联需要进一步的遗传和分子研究.
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