Abstract：
BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation.
RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children\'s health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.
CONCLUSIONS: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.
RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children\'s health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.
CONCLUSIONS: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.
摘要：
背景：尾回归综合征（CRS），也被称为尾发育不全，由于早期的原肠胚形成异常，导致脊髓和脊柱的尾部发育异常。
结果：此报告展示了一个独特的场景，其中三个兄弟姐妹，没有任何先前的家族史或可识别的风险因素，表现出CRS的症状，并在政府运营的专门针对儿童健康的三级机构接受护理。在建立具体诊断时，我们依靠骨骼调查，综合症状评估，和病史评估。此外,我们建议通过磁共振成像和基因检测进行进一步调查，以更深入地了解和确认病情。不幸的是,父母面临的经济困难导致追求这些高级诊断方案不可行.鉴于这种综合症的罕见性和有限的现有文献，我们的报告是一个重要的贡献。这标志着首次从遗传和家族倾向的角度对CRS进行了全面的探索,在这种罕见的情况下发光。
结论：本系列病例开创了我们对CRS和骶骨发育不全之间家族和遗传联系的理解。引人注目的是，随后的每一代都经历过更严重的表现，提供令人信服的证据来支撑CRS的遗传倾向。
结果：此报告展示了一个独特的场景，其中三个兄弟姐妹，没有任何先前的家族史或可识别的风险因素，表现出CRS的症状，并在政府运营的专门针对儿童健康的三级机构接受护理。在建立具体诊断时，我们依靠骨骼调查，综合症状评估，和病史评估。此外,我们建议通过磁共振成像和基因检测进行进一步调查，以更深入地了解和确认病情。不幸的是,父母面临的经济困难导致追求这些高级诊断方案不可行.鉴于这种综合症的罕见性和有限的现有文献，我们的报告是一个重要的贡献。这标志着首次从遗传和家族倾向的角度对CRS进行了全面的探索,在这种罕见的情况下发光。
结论：本系列病例开创了我们对CRS和骶骨发育不全之间家族和遗传联系的理解。引人注目的是，随后的每一代都经历过更严重的表现，提供令人信服的证据来支撑CRS的遗传倾向。
