{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:39Z","timestamp":1786976859600,"version":"build-2736575974"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4297,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the \u201csnowflake sign,\u201d previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha\u2010fetoprotien was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal\u2010epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470320","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:06:03Z","timestamp":1118495163000},"page":"395-400","source":"Crossref","is-referenced-by-count":29,"title":["Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha\u2010fetoprotein"],"prefix":"10.1002","volume":"47","author":[{"given":"Cynthia R.","family":"Dolan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne T.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia 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