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Prenatal diagnosis of the pterygium syndrome
Author(s) -
Zeitune Móshe,
Fejgin Moshe D.,
Abramowicz Jacques,
Aderet Noah Ben,
Goodman Richard M.
Publication year - 1988
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.1970080208
Subject(s) - medicine , polyhydramnios , cystic hygroma , hydrops fetalis , prenatal diagnosis , pulmonary hypoplasia , fetus , hypoplasia , pregnancy , anatomy , surgery , genetics , biology
We report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma. These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography.