克鲁宗样综合征的独特表现:没有基因突变或家族遗传倾向的复杂颅骨畸形--病例报告

Hariom Vaja, Shubham Nayankumar Patel, Abhishek Vadher, Masum Patel, Megh Bhaveshkumar Patel, Jaimin Shah
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引用次数: 0

摘要

Crouzon综合征是一种罕见的遗传性疾病,其特征是颅骨发育过程中颅骨缝合线过早融合,导致各种颅面异常,复杂颅缝闭闭是一种超过一条颅骨缝合线过早融合的情况。在此,我们报告一例5岁男性患者,被诊断为crouzon样综合征和复杂颅缝闭锁,涉及多处颅缝,包括位、矢状、冠状(右和左)和小羔羊形缝合线,核型上没有任何可识别的突变。患者接受了成功的手术干预,结果令人满意,突出了早期诊断和干预的重要性,以预防或减少相关的神经症状和颅面异常。我们的病例报告强调了多重颅缝在复杂颅缝闭塞中的作用,并且没有可识别的突变或类似颅面异常的家族史,为这种疾病的诊断和治疗提供了重要的见解。
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A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition – A case report
Crouzon syndrome is a rare genetic disorder characterized by premature fusion of skull sutures during skull development, resulting in various craniofacial abnormalities and complex craniosynostosis is a condition in which more than one such sutures of the skull fuse prematurely. Herein, we present a case of a 5-year-old male diagnosed with Crouzon-like syndrome and complex craniosynostosis involving multiple cranial sutures, including metopic, sagittal, coronal (right and left), and lambdoid sutures, and without any identifiable mutations on karyotyping. The patient underwent successful surgical intervention with a satisfactory outcome, highlighting the importance of early diagnosis and intervention to prevent or minimize associated neurological manifestations and craniofacial abnormalities. Our case report underscores the involvement of multiple cranial sutures in complex craniosynostosis and the absence of identifiable mutations or family history of similar craniofacial abnormalities, providing important insights into the diagnosis and management of this condition.
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