Prenatal diagnosis of sporadic Apert syndrome: A sequential diagnostic approach combining three-dimensional computed tomography and molecular biology

Apert syndrome is characterized by coronal craniosynostosis, midfacial hypo plasia, symmetrical syndactyly of the hands and feet described as 'mitten-l ike' with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone, We report a case in which the prenatal diagnosis of Apert syndrome was suspec ted by ultrasonography, established by three-dimensional computed tomograph y scan (3DTS) and confirmed by the detection of a mutation on amniotic cell s. This underscores the usefulness of a sequential diagnostic approach comb ining 3DTS and molecular biology in cases in which sonography alone is not conclusive. Copyright (C) 2001 S. Karger AG, Basel.