Bresson J L, Schmitz J, Saudubray J M, Lesec G, Hummel J A, Rey J
Arch Fr Pediatr. 1980 Jan;37(1):21-4.
A new case of Johanson-Blizzard's syndrome is reported. It concerns a boy born to consanguineous parents and who died at the age of 10 months from malnutrition. Anal imperforation, alar agenesia, hair anomalies, mental retardation and external pancreatic failure were associated. Neither deafness nor hypothyroidism appeared to be present. Autopsy revealed lipomatous hypoplasia of the exocrine pancreas, hitherto unobserved in this syndrome, and probably responsible for the external pancreatic failure noted in published cases. The variability within a given family of the Johanson-Blizzard malformative syndrome is illustrated by two other cases reported in the anamnesis, one involving a brother who had died earlier with cutaneous aplasia at the fontanella and lacrimal canal malposition and one involving a second cousin who presented with isolated anal imperforation.
报告了一例新的约翰森-布莱兹综合征病例。患儿父母为近亲结婚，该男孩在10个月大时死于营养不良。伴有肛门闭锁、鼻翼发育不全、毛发异常、智力发育迟缓及外分泌性胰腺功能衰竭。未出现耳聋或甲状腺功能减退。尸检发现外分泌胰腺脂肪瘤样发育不全，此情况在该综合征中迄今未见报道，可能是已发表病例中所提及的外分泌性胰腺功能衰竭的原因。既往史中报告的另外两例病例说明了约翰森-布莱兹畸形综合征在特定家族中的变异性，一例是一名哥哥，较早前死于前囟皮肤发育不全及泪管位置异常，另一例是一名远房表亲，仅表现为肛门闭锁。
