BACKGROUND Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

中文翻译：

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病例报告：有针对性的全外显子组测序可对致命的骨骼发育不良骨性骨狭窄进行首次产前诊断。

背景技术骨质疏松症（OCS）是一种罕见的遗传性疾病，其特征是颅骨缝线，骨性骨过早闭合和围产期致死性过早闭合。以前，只有在产后才可以根据临床和放射学特征进行诊断。这项研究描述了OCS的首次产前诊断。病例介绍在这种情况下，产前超声图像提示严重但非致命的骨骼发育异常。由于不确定的预后，为父母提供了全外显子组测序（WES），该序列在FAMIIIa基因中鉴定出特定的基因突变。先前已在两例中检测到此突变，并且在两个围产期均致命。这确定了诊断，明确了预后，并允许父母就正在进行的妊娠管理做出明智的选择。