Balci S, Dagli S
Department of Clinical Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Clin Genet. 1996 Oct;50(4):223-8. doi: 10.1111/j.1399-0004.1996.tb02631.x.
Two brothers, 17 and 21 years of age, with depressed nasal bridge, prominent frontal bones, hypoplastic maxilla, mild sensorineural hearing loss, broad terminal phalanges and mild pulmonary stenosis are presented. These findings are similar to those of the syndrome described by Keipert et al. in 1973. To the best of our knowledge, this is only the second report of this syndrome.
报告了两兄弟,年龄分别为17岁和21岁,患有鼻梁凹陷、额骨突出、上颌骨发育不全、轻度感音神经性听力损失、指端宽粗以及轻度肺动脉狭窄。这些表现与Keipert等人在1973年描述的综合征相似。据我们所知,这是该综合征的第二例报告。