Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.
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 the sonographic features of a characteristic trilobed skull, abnormal biparietal diameter and head circumference, as well as malformations of the upper and lower extremities led to the diagnosis, confirmed by prenatal fibroblast growth factor receptor type 2 mutation analysis and fetal magnetic resonance imaging. The genetic evaluation revealed a p.P253R mutation in fibroblast growth factor receptor type 2 consisting in a transversion C>G at nucleotide 758. We discuss the relevant prenatal morphologic and genetic findings of this patient and review previously published cases. Our report demonstrates the feasibility of the prenatal diagnosis of Apert syndrome with cloverleaf skull using ultrasound, fetal magnetic resonance imaging and mutation analysis, and also highlights the importance of the biparietal diameter as an early predictor of growth restriction in severe craniosynostosis cases.
Weber
Benedikt
B
Department of Obstetrics and Gynecology, Paracelsus Private Medical University, Müllner Hauptstrasse 48, AT-5020 Salzburg, Austria. h.steiner@salk.at
Schwabegger
Anton H
AH
Vodopiutz
Julia
J
Janecke
Andreas R
AR
Forstner
Rosemarie
R
Steiner
Horst
H
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2