Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis of warfarin embryopathy in an obese woman on unsupervised warfarin prophylaxis at the 16th week of gestation. The fetus presented with facial dysmorphism, pectus excavatum, diaphragmatic hernia, and pulmonary hypoplasia. To the best of our knowledge, this is the second reported case of warfarin-associated diaphragmatic hernia.
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http://dx.doi.org/10.1155/2015/987940 | DOI Listing |
J Laparoendosc Adv Surg Tech A
January 2025
Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, Iran.
Morgagni hernia (MH), a rare type of congenital diaphragmatic hernia, does not have an established protocol for surgical repair. A MEDLINE search with terms related to various surgical approaches to repair MH in children was conducted. Articles comprising robotic-assisted surgery, laparoscopy, laparotomy, thoracoscopy, and thoracotomy over the last 20 years were assessed.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFCase Rep Womens Health
March 2025
Westmead Hospital, New South Wales, Australia.
This case report describes the difficulty in predicting the outcomes for a fetus affected with both left-sided congenital diaphragmatic hernia and second-trimester pre-viable rupture of membranes. Despite the reserved prognosis at the time of diagnosis, a favourable outcome was obtained. The case highlights the relevance of established prognosticators such as the observed/expected lung/head ratio and also underscores the importance of balanced counselling and providing parents with realistic expectations and appropriate support.
View Article and Find Full Text PDFCureus
January 2025
Pediatric Surgery, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
We report the case of a four-month-old male infant diagnosed incidentally with bilateral congenital diaphragmatic hernias. Our patient was found to have chest asymmetry during an unrelated hospital visit and bilateral diaphragmatic defects were confirmed on cross-sectional imaging. Surgical repair of a right-sided Bochdalek hernia and a left-sided Morgagni hernia was performed with excellent outcomes.
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