Search

Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation. Pathogenic variants in at least 30 cilia genes are known to cause skeletal ciliopathies. Here we report a fetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low‐set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre‐ and postaxial polydactyly. Genome sequencing identified compound heterozygous variants in the RAB34 gene: maternal c.254T>C, p.(Ile85Thr), and paternal c.691C>T, p.(Arg231*) variants. Only the paternal variant was present in the unaffected sibling. Evidence in the literature indicated that Rab34−/− mice displayed a ciliopathy phenotype with cleft palate and polydactyly. These features were consistent with malformations detected in our patient supporting the pathogenicity of the identified RAB34 variants. Overall, this case report further expands genetic landscape of human ciliopathy syndromes and suggests RAB34 as a candidate gene for skeletal ciliopathies. [ABSTRACT FROM AUTHOR]

Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular disorder characterized by multifocal venous malformations (VMs). Little is known about the perinatal management of pregnant women with BRBNS owing to the limited number of reported cases. We present the case of a 36-year-old primigravida with BRBNS who underwent an uneventful cesarean section under spinal anesthesia for breech presentation. A thorough systemic examination revealed VMs in various organs, including the skin, conjunctiva, larynx, gastrointestinal tract, lungs, and vulva. Prior to spinal anesthesia, careful examination using imaging modalities was conducted to assess the spinal and epidural involvement of the VMs to avoid complications, including accidental puncture of the VMs, associated bleeding, and epidural hematoma. In pregnant women with BBNS, it is imperative to scrutinize the localization and distribution of VMs throughout the body to anticipate potential complications and select the appropriate delivery mode and anesthetic management., Competing Interests: The authors declare that they have no conflicts of interest.

Few studies have examined the relationship between pelvic size and the success or failure of trial of labor after cesarean delivery (TOLAC). Here we aimed to determine whether pelvic size and morphological data obtained from radiography contribute to the first successful TOLAC. This retrospective single-center observational study enrolled pregnant women who underwent TOLAC between 2010 and 2021. The results of X-ray pelvimetry data, including obstetric conjugate (OC), transverse diameter of the pelvic inlet (TD), anteroposterior diameter of the pelvic inlet (APD), shape of the pelvic inlet, and other obstetrical clinical data, were compared between the success and failure groups. Seventy-five patients in successful group after excluding 35 patients with previous successful TOLAC, and 21 patients in failure group were eligible. The failure group had a higher rate of previous cesarean sections due to failed labor trials (p = 0.042) and heavier newborns (p = 0.014). OC, TD, and APD on X-ray pelvimetry did not differ significantly between the two groups nor did the shape of the pelvic inlet affect the success rate for TOLAC. The generalized linear model identified a history of failed trials of labor as a significant predictor of failed TOLAC (odds ratio, 0.26; 95% confidence interval 0.071-0.923; p = 0.037), whereas no pelvimetric parameters were found. Pelvic size and morphological findings have no discernible impact on the outcomes of TOLAC. The universal application of X-ray pelvimetry in all women attempting TOLAC may not have significant clinical relevance.

Exercise induced anaphylaxis (EIA) is a rare and potentially life-threatening syndrome characterized by anaphylaxis provoked by exercise. Although vaginal delivery with labor pain is a physical strain for women and a possible trigger for EIA, no consensus exists on the management strategy of delivery in patients with EIA. A 28-year-old primigravida was referred to our hospital because of history of EIA, associated with pruritus, urticaria, and respiratory distress, exacerbated during physical activity. To avoid physical stress, we chose scheduled labor induction with epidural anesthesia, and administered prophylactic intravenous hydrocortisone. She delivered vaginally with no symptoms suggestive of EIA during labor. Since it is quite possible for patients with EIA to develop anaphylaxis during vaginal delivery with labor pain, epidural anesthesia and prophylactic steroid administration may be the most rational approaches for delivery in pregnant women with EIA., Competing Interests: The authors declare that they have no conflicts of interest.