Apert Syndrome: The Current Role of Prenatal Ultrasound and Genetic Analysis in Diagnosis and Counselling

被引：16

作者：

Athanasiadis, A. P. ^{[1
]}

Zafrakas, M.

Polychronou, P.

Florentin-Arar, L. ^{[2
]}

Papasozomenou, P.

Norbury, G. ^{[3
]}

Bontis, J. N.

机构：

[1] Aristotle Univ Thessaloniki, Dept Obstet & Gynaecol 1, Prenatal Diagnost Ctr Thessaloniki, GR-54623 Thessaloniki, Greece

[2] Alpha Lab, Athens, Greece

[3] NE Thames Reg Mol Genet Lab, London, England

来源：

FETAL DIAGNOSIS AND THERAPY | 2008年 / 24卷 / 04期

关键词：

Apert syndrome; Congenital malformations; Craniosynostosis; Syndactyly; Midfacial hypoplasia; Fibroblast growth factor receptor 2;

D O I：

10.1159/000181186

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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 (C) 2008 S. Karger AG, Basel

引用

页码：495 / 498

页数：4

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