Rudnik-Schöneborn S, Keller B, Beemer F A, Pistor K, Swanenburg de Veye H F, Zerres K
Institut für Humangenetik, Universität Bonn.
Klin Padiatr. 1991 Jan-Feb;203(1):33-8. doi: 10.1055/s-2007-1025396.
Johanson-Blizzard syndrome (JBS) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and dental anomalies. We report on 3 patients with JBS who demonstrate the clinical variability of additional symptoms. In contrast to the common mental retardation in JBS we stress the outstanding intellectual abilities of one patient. It is important to realize the treatable dysfunctions in JBS. Specific therapy of e.g. pancreatic insufficiency and hypothyroidism can lead to a marked improvement of the clinical course. For the first time we discuss a possible sex influence. There is evidence that females have a better prognosis. The literature is reviewed, and aspects of differential diagnosis of JBS are considered.
约汉森-布利扎德综合征（JBS）是一种常染色体隐性遗传疾病，其特征为胰腺功能不全、鼻翼发育不全或未发育以及牙齿异常所导致的特殊面容。我们报告了3例JBS患者，展示了其额外症状的临床变异性。与JBS常见的智力发育迟缓不同，我们强调了其中1例患者出众的智力能力。认识到JBS中可治疗的功能障碍很重要。例如，针对胰腺功能不全和甲状腺功能减退的特异性治疗可显著改善临床病程。我们首次讨论了可能的性别影响。有证据表明女性预后较好。本文对相关文献进行了综述，并考虑了JBS鉴别诊断的各个方面。
