Gould N S, Paton J B, Bennett A R
Department of Pathology, Michael Reese Hospital and Medical Center, Chicago, IL 60616.
Am J Med Genet. 1989 Jun;33(2):194-9. doi: 10.1002/ajmg.1320330212.
Here we report on 2 sibs with the Johanson-Blizzard syndrome (JBS). The first child died in the neonatal period, the autopsy showing presence of pancreatic ducts and islets surrounded by connective tissue and a total absence of acini. Morphologic changes suggested dysplasia leading to developmental failure, but early acinar destruction could not be ruled out. The second child had a constellation of abnormalities consistent with JBS, was managed surgically, and is maintained on replacement for his pancreatic enzyme and thyroid hypofunction. At 10 years, he is in a school for the hearing-impaired and is performing appropriately for his age.
我们在此报告2例患有乔汉森-布莱兹综合征（JBS）的同胞。第一个孩子在新生儿期死亡，尸检显示胰腺导管和胰岛被结缔组织包围，腺泡完全缺失。形态学改变提示发育异常导致发育失败，但不能排除早期腺泡破坏。第二个孩子有一系列与JBS相符的异常表现，接受了手术治疗，并接受胰腺酶替代治疗及甲状腺功能减退的治疗。10岁时，他在一所聋哑学校上学，学习表现与同龄人相当。
