虹膜缺损、上睑下垂、眼距过宽及智力发育迟缓：是巴赖特-温特综合征还是努南综合征？
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
作者信息
Verloes A
机构信息
Centre for Human Genetics, Liège University, CHU Sart Tilman, Belgium.
出版信息
J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425.
Abstract
Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.
摘要
据报道，有三名儿童患有虹膜缺损、上睑下垂、眼距过宽以及生长和智力发育迟缓的组合症状，可能为常染色体隐性遗传。我们报告了一例临床特征涵盖该综合征和努南综合征的病例，并讨论了这种复杂表型的可能解释。
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