Dumić M, Ille J, Bobonj G, Kordić R, Batinica S
Klinika za pedijatriju Rebro, Medicinskog fakulteta Sveucilista u Zagrebu.
Lijec Vjesn. 1998 May;120(5):114-6.
A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair with frontal up sweep, alae nasi hypoplasia, irregular dentition and nasolacrimal fistula, with mental insufficiency, partial exocrine pancreatic insufficiency and low birth-weight and length, hypotonia and failure to thrive in infancy. Congenital cataract and hiatus sacralis apertus are additional signs that have never been described in the literature concerning Johanson-Blizzard syndrome.
首次报告一例17岁10个月大患有乔汉森-布利扎德综合征的男孩。根据颅面异常确诊：小头畸形、顶骨皮肤和骨缺损、头发稀疏且额部上翘、鼻翼发育不全、牙列不齐和鼻泪管瘘，伴有智力缺陷、部分外分泌性胰腺功能不全、低出生体重和身长、肌张力减退以及婴儿期生长发育迟缓。先天性白内障和骶裂孔开放是文献中从未描述过的关于乔汉森-布利扎德综合征的其他体征。
