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A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
BMC Med Genomics
October 2024
NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, No. 53 Xiangchun Road, Changsha, 410008, Hunan, China.
Background: X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. ARSL (formerly known as ARSE), a member of the sulfatase gene family located on Xp22.3, has been identified as the causative gene for CDPX1.
View Article and Find Full Text PDFChondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome.
J Nepal Health Res Counc
January 2017
Department of Radiology and Imaging, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation.
View Article and Find Full Text PDFSevere X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
July 2015
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, France.
Article Synopsis
- Conradi-Hünermann-Happle syndrome (CDPX2) is a rare X-linked dominant skeletal disorder predominantly affecting females, with severe cases being extremely rare and usually lethal in males.
- A study focused on 9 female fetuses with EBP mutations revealed key ultrasound findings such as bone abnormalities and irregular spinal structure, with a mean diagnosis age of 22 weeks in gestation.
- The results emphasize that prenatal detection of specific skeletal abnormalities can indicate the possibility of CDPX2, as most cases arise from new mutations rather than inherited ones.
Fetotoxicity of warfarin anticoagulation.
Arch Gynecol Obstet
September 2010
Department of Pediatrics, UCMS and GTB Hospital, Dilshad Garden, Delhi, India.
Introduction: Fetal warfarin syndrome (warfarin embryopathy) is a consequence of maternal ingestion of warfarin during pregnancy. Warfarin fetotoxicity comprises wide range of manifestations including dysmorphology in neonate with characteristic classical features of nasal hypoplasia and stippling of epiphyses.
Materials And Methods: Here we present a case of a neonate whose mother was on unsupervised warfarin prophylaxis throughout pregnancy.
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