...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Clinical and Diagnostic Research >Bartsocas-Papas Syndrome: A Lethal Multiple Pterygium Syndrome
【24h】

Bartsocas-Papas Syndrome: A Lethal Multiple Pterygium Syndrome

机译：Bartsocas-papas综合征：致死的多个翼状综合征

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Bartsocas-Papas Syndrome (BPS) is a very rare autosomal recessive syndrome characterised by marked craniofacial deformities, multiple pterygia of various joints, limb and genital abnormalities.It is mostly associated with mutation in the gene encoding Receptor Interacting Serine/Threonine Kinase 4 (RIPK4) required for keratinocyte differentiation.The syndrome is generally lethal and majority of babies die in-utero or in the early neonatal period.This is a report about a neonate born with characteristic clinical features of BPS including severe craniofacial and ophthalmic abnormalities, limb deformities and multiple pterygia at popliteal, axillary and inguinal region.The baby had respiratory distress at birth and was managed conservatively on Continuous Positive Airway Pressure (CPAP)/Oxygen hood and injectable antibiotics for two weeks and then referred for further work-up to a tertiary hospital.The parents took the baby home against the advice of the treating doctors and she subsequently died after 10 days.BPS is associated with high mortality and so all efforts should be directed towards diagnosing it early antenatally when termination of pregnancy is a viable option.This is possible by having a high index of suspicion in couples with consanguineous marriages or with a positive family history.
机译：Bartsocas-papas综合征（BPS）是一种非常稀有的常血剂学隐性综合征，其特征在于标记的颅面畸形，各种关节，肢体和生殖器异常的多个翼状胬肉。主要与编码受体的突变相关，所述受体相互作用丝氨酸/苏氨酸激酶4（RIPK4类角蛋白酶分化所需的。综合征通常是致命和大多数婴儿在子宫内或在新生儿早期死亡。这是一个关于出生的新生儿的新生儿的报告，包括严重的颅面和眼科异常，肢体畸形和肢体畸形。 Popliteal，腋生和腹股沟区的多个翼痛。婴儿在出生时患有呼吸窘迫，并保守持续正负气道压力（CPAP）/氧气罩和注射抗生素两周，然后提交给第三节医院的进一步处理。父母带着宝宝的家庭反对治疗医生和她的建议10天后死亡.bps与高死亡率有关，因此所有努力都应该在怀孕期间终止时旨在在早期出现诊断时，这是一种可行的选择。这是可以在临近婚姻的夫妇中具有高度的怀疑指数积极的家庭历史。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号