Prenatal diagnosis of Pfeiffer syndrome type II.
Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history.
Blaumeiser
Bettina
B
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. bettina.blaumeiser@uia.ua.ac.be
Loquet
Philip
P
Wuyts
Wim
W
Nöthen
Markus M
MM
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D016216:Ultrasonography, Prenatal
D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2