title: Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.
abstract: Apert syndrome is a rare congenital malformation syndrome characterized by the triad of cutaneous and progressive bony syndactyly, midfacial hypoplasia and craniosynostosis. Two missense mutations of the gene encoding the fibroblast growth factor receptor 2 (FGFR2) have been implicated in most cases. We report a case of Apert syndrome detected on prenatal ultrasound. Postnatal genetic analysis showed, for the first time, that the previously reported P253R mutation of the FGFR2 gene is also prevalent in southeast Europe. After prenatal sonographic detection of anomalies suggestive of Apert syndrome, parents should be counselled about prognosis and risk of recurrence, and the option of amniocentesis should be offered.
authors.affiliation: 1st Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece. cordocentesis
authors.forename: A P
authors.initials: AP
authors.lastname: Athanasiadis
authors.forename: M
authors.initials: M
authors.lastname: Zafrakas
authors.forename: P
authors.initials: P
authors.lastname: Polychronou
authors.forename: L
authors.initials: L
authors.lastname: Florentin-Arar
authors.forename: P
authors.initials: P
authors.lastname: Papasozomenou
authors.forename: G
authors.initials: G
authors.lastname: Norbury
authors.forename: J N
authors.initials: JN
authors.lastname: Bontis
mesh_terms: D000028:Abortion, Induced; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D005260:Female; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2