Stratton R F, Koehler N, Morrow W R
Department of Pediatrics, Wilford Hall USAF Medical Center, San Antonio, TX 78236-5300.
Am J Med Genet. 1988 Feb;29(2):333-41. doi: 10.1002/ajmg.1320290212.
We report on a patient with pre- and postnatal growth retardation, bilateral symmetrical ulnar agenesis with monodactyly, atrial septal defect, two ventricular septal defects, Wolff-Parkinson-White conduction abnormality, and abnormal configuration of the pancreas. Although she had some facial features reminiscent of the Brachmann-de Lange syndrome, relatively normal head size and motor development indicate a distinct syndrome.
我们报告了一名患有产前和产后生长发育迟缓、双侧对称性尺骨发育不全伴单指畸形、房间隔缺损、两个室间隔缺损、预激综合征以及胰腺形态异常的患者。尽管她有一些面部特征让人联想到布-德综合征,但相对正常的头部大小和运动发育表明这是一种独特的综合征。