Premium
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography
Author(s) -
Achiron R.,
HamielPinchas O.,
Engelberg S.,
Barkai G.,
Reichman B.,
Mashiach S.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120909
Subject(s) - aplasia cutis congenita , medicine , epidermolysis bullosa , aplasia , dermatology , prenatal diagnosis , pathology , fetus , pregnancy , surgery , scalp , biology , genetics
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.