A Case of Prenatally Diagnosed Apert syndrome / 대한산부인과학회잡지

ABSTRACT

Apert syndrome or acrocephalosyndactyly is a rare developmental deformity with a sporadic or autosomal dominant trait characterized by coronal craniosynostosis, midface hypoplasia, exorbitism, typical symmetrical syndactyly of both hands and feet with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor receptor type-2 (FGFT2) gene. In the absence of family history, prenatal diagnosis may be difficult based on ultrasonographic findings alone. The original description was presented by Apert in 1906 with nine cases. Since then more than 200 cases have been reported in the world. We report a case of Apert syndrome diagnosed prenatally by ultrasonogram in the third trimester and subsequently was terminated, with a brief review of prenatal sonographic findings in 11cases reported in literature.