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Prenatal ultrasound diagnosis of Apert's syndrome
Author(s) -
Narayan Harini,
Scott Ian V.
Publication year - 1991
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.1970110308
Subject(s) - apert syndrome , syndactyly , medicine , prenatal diagnosis , gestation , ultrasound , fetus , pathological , pregnancy , obstetrics , in utero , radiology , surgery , pathology , craniosynostosis , biology , genetics
A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16–17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.