Huang H W, Lin H, Chang S Y, Hsu Y H, Hsu T Y
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, ROC.
Chang Gung Med J. 2001 Dec;24(12):816-9.
Craniosynostosis is an abnormal shape or dimension of the skull caused by premature closure of one or more skull sutures. It includes scaphocephaly, brachycephaly, oxycephaly, plagiocephaly, trigonocephaly, turricephaly, and a cloverleaf-shaped head. The only cases of craniosynostosis that have been reported concern fetuses with complex and marked craniosynostosis syndromes such as acrocraniofacial dysostosis, Apert's syndrome, Beare-Stevenson cutis gyratum syndrome, Calabro's syndrome, etc. Isolated or simple craniosynostosis, however, is a developmental anomaly rarely found on routine ultrasound examination. We present a case that was diagnosed as scaphocephaly with moderate polyhydramnios by prenatal ultrasound. No other structural anomaly was detected, and the karyotyping was normal. So isolated sagittal craniosynostosis was diagnosed prenatally and was confirmed by postnatal skull radiography as well as 3-dimensional computed tomography. The infant underwent bilateral parietal craniectomy at the age of 3 months. He obtained a good result with no mental problems 4 years after the operation. To our knowledge, this is the second report on the prenatal detection of an isolated form of craniosynostosis.
颅缝早闭是指一个或多个颅骨缝线过早闭合导致的颅骨形状或尺寸异常。它包括舟状头、短头、尖头、斜头、三角头、塔头以及三叶草头形。已报道的颅缝早闭病例仅涉及患有复杂且明显的颅缝早闭综合征的胎儿,如尖头并指(趾)畸形、阿佩尔综合征、贝-史蒂文森回状头皮综合征、卡拉布罗综合征等。然而,孤立性或单纯性颅缝早闭是一种在常规超声检查中很少发现的发育异常。我们报告一例经产前超声诊断为舟状头并伴有中度羊水过多的病例。未检测到其他结构异常,染色体核型分析正常。因此,产前诊断为孤立性矢状缝颅缝早闭,并经产后颅骨X线摄影及三维计算机断层扫描证实。该婴儿在3个月大时接受了双侧顶骨颅骨切除术。术后4年,他恢复良好,没有精神问题。据我们所知,这是关于产前检测孤立性颅缝早闭的第二篇报道。