Department of Obstetrics and Gynecology, Kulu State Hospital, Kula/Konya, Turkey.
Am J Perinatol. 2010 Mar;27(3):189-92. doi: 10.1055/s-0029-1234031. Epub 2009 Jul 24.
Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gestation. Upon evaluation, fetal vertebral wedging and kyphoscoliosis were confirmed with the addition of thoracic circumference below 3rd percentile, short thorax length, and mild pyelectasis. During follow-up, in utero inguinoscrotal hernia developed. Prenatal diagnosis of SCD is important to provide appropriate genetic counseling and to have an adequate setting for the delivery of the fetus.
Jarcho-Levin 综合征的特征是短躯干侏儒症，伴有肋骨和椎体异常。该综合征包括一组具有表型和遗传变异的疾病。在这里，我们报告了一例产前诊断为脊柱肋发育不良（SCD）伴先天性腹股沟阴囊疝的患者。一位 28 岁的孕妇，孕 4 产 3，在 28 周妊娠时因胎儿胸椎楔形和脊柱侧凸被转诊至我院。经评估，胎儿脊柱楔形和脊柱侧凸被证实，同时伴有第 3 百分位以下的胸围、短胸长和轻度肾盂扩张。随访期间，胎儿出现了先天性腹股沟阴囊疝。产前诊断 SCD 很重要，可提供适当的遗传咨询，并为胎儿分娩做好充分的准备。
