Article
Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.
Fetal diagnosis and therapy - 1 Jan 2010
Weber Benedikt, Schwabegger Anton H, Vodopiutz Julia, Janecke Andreas R, Forstner Rosemarie, Steiner Horst
Abstract excerpt
Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and symmetric cutaneous and bony syndactyly of the limbs. The skull is usually hyperacrobrachycephalic, whereas frank cloverleafing, as a clinically obvious trilobed skull deformity, is rarely seen in these patients. We report a rare case of Apert syndrome with cloverleaf skull deformity, prenatally diagnosed at 26weeks' gestation in which...
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