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Titolo:
PRENATAL DETECTION OF EPIDERMOLYSIS BULLOSA-LETALIS WITH PYLORIC ATRESIA IN A FETUS BY ABNORMAL ULTRASOUND AND ELEVATED ALPHA-FETOPROTEIN
Autore:
DOLAN CR; SMITH LT; SYBERT VP;
Indirizzi:
INLAND NW GENET CLIN,POB 248 SPOKANE WA 99210 UNIV WASHINGTON,SCH MED,DEPT BIOL STRUCT,DIV DERMATOL SEATTLE WA 98195 UNIV WASHINGTON,SCH MED,DEPT MED,DIV DERMATOL SEATTLE WA 98195 UNIV WASHINGTON,SCH MED,DEPT PEDIAT,DIV MED GENET SEATTLE WA 98195 UNIV WASHINGTON,SCH MED,DEPT MED,DIV DERMATOL SEATTLE WA 98195 CHILDRENS HOSP & MED CTR SEATTLE WA 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 47, anno: 1993,
pagine: 395 - 400
SICI:
0148-7299(1993)47:3<395:PDOEBW>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
APLASIA-CUTIS-CONGENITA; AMNIOTIC-FLUID; MATERNAL SERUM; DIAGNOSIS; SIBLINGS; ASSOCIATION; OBSTRUCTION; SIBS;
Keywords:
EPIDERMOLYSIS-BULLOSA-LETALIS; PYLORIC ATRESIA; SNOWFLAKE SIGN; ALPHA-FETOPROTEIN; PRENATAL DIAGNOSIS; ULTRASTRUCTURE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
C.R. Dolan et al., "PRENATAL DETECTION OF EPIDERMOLYSIS BULLOSA-LETALIS WITH PYLORIC ATRESIA IN A FETUS BY ABNORMAL ULTRASOUND AND ELEVATED ALPHA-FETOPROTEIN", American journal of medical genetics, 47(3), 1993, pp. 395-400

Abstract

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 withdisorders 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 findingsare consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the testresults are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains. (C) 1993 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 06:12:35