Urrejola P, Cattani A, Heusser F, Talesnik E
Departamento de Pediatría, Escuela de Medicina, Universidad Católica de Chile.
Rev Chil Pediatr. 1991 Nov-Dec;62(6):381-5.
Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.
本文报告了两名患有迪格奥尔格综合征的患者。诊断分别在4个月和16天时做出。他们的主要临床症状为低钙惊厥、特殊面容（眼距增宽、低位突出耳、小颌畸形、人中短）和心脏畸形（其中一人为右主动脉弓血管环、左无名动脉异常及动脉韧带，另一人为法洛四联症合并肺动脉瓣闭锁）。第一名患者现为一名3.5岁男孩，其血管环已修复，患有甲状旁腺功能减退，但无细胞免疫缺陷的临床及实验室证据。另一名患者在出生后第二周出现心力衰竭迹象，于16天时死亡，尸检显示为法洛四联症合并肺动脉瓣闭锁、动脉导管未闭、组织学上正常的异位胸腺及甲状旁腺缺如。我们推测这些病例属于迪格奥尔格综合征的部分型。
