Hurley Maja E, White Martin J, Green Andrew J, Kelleher Jerry
Department of Radiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
Pediatr Radiol. 2004 Feb;34(2):148-51. doi: 10.1007/s00247-003-1066-7. Epub 2003 Sep 26.
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome.
本报告描述了一名患有安特利-比克斯勒（AB）综合征的男婴。AB综合征是一种罕见的疾病，主要特征为颅缝早闭和包括桡肱关节融合在内的多处关节挛缩。我们的患者与该病的常见表现不同之处在于，其存在的是桡尺关节融合而非桡肱关节融合。此外，该患儿存在FGFR1 1300T突变，此前该突变与AB综合征并无关联。因此，我们的患者呈现出独特的特征，这也为支持AB综合征样谱系而非单一综合征提供了又一论据。
