Congenital pyloric atresia (CPA) is a rare disorder that has traditionally been diagnosed in the postnatal period. With improvements in ultrasound technology and increasing use of MRI, CPA is now diagnosed with increasing accuracy in utero. This also allows for identification of concomitant anomalies, which greatly affects infant survival. In addition, antenatal diagnosis of CPA and associated anomalies allow for family counseling and planning of treatment for the perinatal period including early referral to a center with pediatric surgical services. Here, we present a case of CPA with preoperative diagnosis using ultrasound and MRI.
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http://dx.doi.org/10.1016/j.jpedsurg.2009.08.016 | DOI Listing |
J Surg Case Rep
December 2024
Department of Surgery, University of Miami, PO Box 016960 (C203), Miami, FL 33101, United States.
Congenital colonic stenosis (CCS) is a rare cause of intestinal obstruction, most commonly presenting in the neonatal period. We present a case of delayed CCS and describe the diagnostic challenges experienced. A 16-week-old female patient presented with persistent failure to thrive associated with signs of intestinal obstruction.
View Article and Find Full Text PDFGlob Med Genet
December 2024
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, United States.
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p.
View Article and Find Full Text PDFPaediatr Anaesth
January 2025
Department of Anesthesiology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.
J Am Vet Med Assoc
December 2024
1Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, CO.
Eur J Med Genet
December 2024
Acibadem Mehmet Ali Aydinlar University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey. Electronic address:
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