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| Research article summary (published 9 Dec 2008): |
Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.
Full 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. Copyright 2008 S. Karger AG, Basel.
Author information
Author/s: Athanasiadis, A P (AP); Zafrakas, M (M); Polychronou, P (P); Florentin-Arar, L (L); Papasozomenou, P (P); Norbury, G (G); Bontis, J N (JN);
Affiliation: 1st Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece. cordocentesis
Journal and publication information
Publication Type: Case Reports; Journal Article
Journal: Fetal diagnosis and therapy (Fetal Diagn Ther), published in Switzerland. (Language: eng)
Reference: 2008-; vol 24 (issue 4) : pp 495-8
Dates: Created 2009/01/30; Completed 2009/04/13;
PMID: 19077386, status: MEDLINE (last retrieval date: 4/13/2009, IMS Date: )
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
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