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Purpose: Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.
Methods: We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia.
Results: A molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1-, RYR1-, or TUBB-related disorders). In addition, we identified likely pathogenic variants in genes (DSTYK, ACTB, and HIVEP2) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort.
Conclusion: Our study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power-but also the challenges-of WES in prenatal diagnosis.
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http://dx.doi.org/10.1038/gim.2017.173 | DOI Listing |
J Orthop Surg Res
December 2024
The First Affiliated Hospital of Guangxi Medical University, 6 Shuangyong Road, Nanning, Guangxi, China.
Background: Congenital radioulnar synostosis (CRUS) is a rare upper limb deformity characterized by impaired rotational movement of the forearm. Rotational osteotomy is a commonly employed surgical procedure for treatment. This study aimed to analyze its surgical efficacy in treating CRUS in children.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
"Carol Davila" University of Medicine and Pharmacology, Bucharest, Romania.
Background: Congenital scoliosis with progressive potential is a controversial subject in early-onset spinal deformities. The presence of a hemivertebra may produce severe spinal deformities. The evolution of a scoliotic curve in these cases is unpredictable and requires careful follow-up dependent on multiple variables, such as the location of the hemivertebra, the age of the patient at the time of diagnosis, and the degree of deformity already present in both sagittal and frontal planes.
View Article and Find Full Text PDFJ Orthop Surg Res
December 2024
Department of Pediatric Orthopedics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang City, Liaoning Province, 110004, China.
Background: The muscles that encase the hip serve a crucial role in both joint stability and functional efficacy, and as developmental dysplasia of the hip (DDH) progresses, the surrounding musculature may undergo specific adaptations that reduce joint stability, thereby exacerbating dislocation. Yet, the exact nature of changes in muscle morphology and quality remains inadequately investigated. This study aimed to compare magnetic resonance imaging (MRI) evaluations of the iliopsoas and other hip flexor and extensor muscles in children with unilateral DDH before and after treatment.
View Article and Find Full Text PDFBMC Nephrol
December 2024
Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, 518000, China.
Background: POEMS syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes is an uncommon plasma cell paraneoplastic syndrome involving multiple system. It is relatively rare in clinical practice, and renal involvement is a usual yet easily overlooked symptom.
Case Presentation: We successfully treated a patient with M protein-negative POEMS syndrome with membranoproliferative glomerulonephritis (MPGN) findings and thrombotic microangiopathic changes by comparing the level of Vascular endothelial growth factor (VEGF) in the serum and the changes in polyserositis before and after the patient's treatment.
BMJ Case Rep
December 2024
Facultad de Medicina, Universidad Anahuac Cancun, Cancún, Quintana Roo, Mexico
This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient's medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!