Nhongo Sipho Simon, Simpson Eilidh, Halsnad Moorthy, Sangra Meharpal, Shafi Ahad, Campbell Jamie, Thompson Louise, Moore David
Specialty Registrar, Oral and Maxillofacial Surgery, Scottish National Centre for Craniofacial Surgery, Royal Hospital for Children, Glasgow, UK.
Third Year Medical Student at the University of Glasgow, Glasgow, UK.
JPRAS Open. 2025 Jun 3;45:170-175. doi: 10.1016/j.jpra.2025.05.013. eCollection 2025 Sep.
Craniosynostosis is a congenital condition caused by the early fusion of one or more skull vault sutures during embryological development, resulting in an abnormal head shape. This condition has been linked to many gene variants. The authors report a case of a novel heterozygous pathogenic variant, in a young boy presenting with metopic craniosynostosis with preaxial polysyndactyly. Craniosynostosis is a rarely reported feature of related disorder. This report highlights the investigations that were performed to identify this variant and details the child's surgical management and outcome.
颅缝早闭是一种先天性疾病，由胚胎发育过程中一个或多个颅顶骨缝过早融合引起，导致头部形状异常。这种疾病与许多基因变异有关。作者报告了一例新的杂合致病性变异病例，该病例为一名患有额缝早闭并伴有轴前多指畸形的小男孩。颅缝早闭是相关疾病中鲜有报道的特征。本报告重点介绍了为识别该变异所进行的调查，并详细说明了患儿的手术治疗及结果。
