Hemorrhagic shock due to irreducible uterine torsion in a third trimester twin pregnancy: A case report

Uterine torsion is a rare life-threatening event that happens at any age or any gestational age. By definition, it consists of a rotation of more than 45 degrees around the long axis of the uterus. The reported cases have variable presentations. The uterine torsion can happen without any sequelae either for the fetus or the mother. However, fetal and maternal mortalities were also reported in such a case. We hereby, report the case of a 29-year-old female patient, with previous four Normal Vaginal Deliveries, pregnant with twins, presenting at 36 weeks gestation with an irreducible uterine torsion at the third trimester of her pregnancy complicated by maternal and fetal deaths. We concluded that the prognosis is improved as long as the management is done rapidly. More data is needed to know about the genetic predilection and the characteristics of imaging workup for a rapid preoperative diagnosis of this condition.&nbsp

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with KIF7 mutations. KIF7 is also a likely contributor of alleles across the ciliopathy spectrum, as sequencing of a diverse cohort identified several missense mutations detrimental to protein function. In addition, in vivo genetic interaction studies indicated that knockdown of KIF7 could exacerbate the phenotype induced by knockdown of other ciliopathy transcripts. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathie