APLASIA-CUTIS-CONGENITA ASSOCIATED WITH EPIDERMOLYSIS-BULLOSA AND PYLORIC ATRESIA - THE DIAGNOSTIC ROLE OF PRENATAL ULTRASONOGRAPHY

被引:28
作者
ACHIRON, R
HAMIELPINCHAS, O
ENGELBERG, S
BARKAI, G
REICHMAN, B
MASHIACH, S
机构
[1] CHAIM SHEBA MED CTR,DEPT NEONATOL,IL-52621 TEL HASHOMER,ISRAEL
[2] CHAIM SHEBA MED CTR,DEPT PATHOL,IL-52621 TEL HASHOMER,ISRAEL
[3] TEL AVIV UNIV,SACKLER SCH MED,TEL AVIV,ISRAEL
关键词
APLASIA-CUTIS-CONGENITA; EPIDERMOLYSIS BULLOSA; PYLORIC ATRESIA; ULTRASOUND DIAGNOSIS;
D O I
10.1002/pd.1970120909
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha-fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.
引用
收藏
页码:765 / 771
页数:7
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