| Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. | |
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MedLine Citation:
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PMID: 7510931 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 alpha-fetoprotein levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the "snowflake sign," previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha-fetoprotein 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-epidermal 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. |
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Authors:
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C R Dolan; L T Smith; V P Sybert |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 47 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Sep |
Date Detail:
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Created Date: 1994-04-19 Completed Date: 1994-04-19 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 395-400 Citation Subset: IM |
Affiliation:
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Inland Northwest Genetics Clinic, Spokane, Washington 99210-0248. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
embryology Adolescent Amniotic Fluid / chemistry* Biopsy Consanguinity Epidermolysis Bullosa / diagnosis*, embryology, genetics, pathology Fatal Outcome Female Fetal Diseases / diagnosis* Fetoscopy Genes, Lethal Humans Infant, Newborn Pregnancy Prenatal Diagnosis* Pylorus / abnormalities* Skin / embryology, pathology Ultrasonography, Prenatal* alpha-Fetoproteins / analysis* |
| Grant Support | |
ID/Acronym/Agency:
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N01AM 62272/AM/NIADDK NIH HHS; P01-AR21557/AR/NIAMS NIH HHS; R37HD17664/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/alpha-Fetoproteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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