title: [Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities].
abstract: Crouzon syndrome is a cranio-facial dysostosis with autosomal dominant transmission and a birth prevalence of 16.5 per million newborns. Up till now there is no publications in polish medical journals about ultrasonic diagnosis of Crouzon syndrome or of any other craniostenosis. The development of ultrasonography, three-dimensional ultrasonography and in the last years also MRI, allows earlier detection and diagnosis of fetal malformation and enables precise evaluation of his anatomy. The aim of the study is presentatoin Crouzon syndrom diagnosed prenatally by ultrasonography and confirmed moleculary by DNA analysis. We would like to stress the diagnostic problems and the difficult decisions that we encountered.
authors.affiliation: Klinika Poloznictwa i Ginekologii Instytutu Matki i Dziecka w Warszawie. kpig@imid.med.pl
authors.forename: Renata
authors.initials: R
authors.lastname: Jaczyńska
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Krzysztof Tomasz
authors.initials: KT
authors.lastname: Niemiec
authors.forename: Jerzy
authors.initials: J
authors.lastname: Leibschang
authors.forename: Alicja
authors.initials: A
authors.lastname: Ceran
authors.forename: Bozena
authors.initials: B
authors.lastname: Kowalska
authors.forename: Mariusz
authors.initials: M
authors.lastname: Furmanek
authors.forename: Piotr
authors.initials: P
authors.lastname: Sucharski
mesh_terms: D000328:Adult; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2