TY - JOUR
T1 - Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia
T2 - The diagnostic role of prenatal ultrasonography
AU - Achiron, R.
AU - Hamiel‐Pinchas, O.
AU - Engelberg, S.
AU - Barkai, G.
AU - Reichman, B.
AU - Mashiach, S.
PY - 1992/9
Y1 - 1992/9
N2 - 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.
AB - 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.
KW - Aplasia cutis congenita
KW - Epidermolysis bullosa
KW - Pyloric atresia
KW - Ultrasound diagnosis
UR - http://www.scopus.com/inward/record.url?scp=0026698731&partnerID=8YFLogxK
U2 - 10.1002/pd.1970120909
DO - 10.1002/pd.1970120909
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C2 - 1279662
AN - SCOPUS:0026698731
SN - 0197-3851
VL - 12
SP - 765
EP - 771
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 9
ER -