Hurst J A, Winter R M, Baraitser M
Hospital for Sick Children, London, United Kingdom.
Am J Med Genet. 1988 Jan;29(1):107-15. doi: 10.1002/ajmg.1320290113.
We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.
我们报告了2名无亲缘关系的男孩，他们面部特征独特，患有小耳畸形、外耳道闭锁、小下颌和小口畸形，同时还伴有骨骼发育异常、小头畸形和关节挛缩。骨骼异常、身材矮小和小头畸形最初导致诊断为骨发育异常性原始侏儒症；然而，其中一名儿童的出生体重并不低，不足以确诊。这些相似之处是通过伦敦畸形数据库的匹配程序检测到的。
