Deutsch Curtis K, Hreczko Tania, Holmes Lewis B
Eunice Kennedy Shriver Center UMMS, Waltham, Massachusetts 02452, USA.
Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):166-9. doi: 10.1002/bdra.23121. Epub 2013 Mar 6.
Here we apply objective, reliable methods of dysmorphology diagnosis to a patient with Johanson-Blizzard syndrome (MIM #243800). Using an extensive normative database, we computed standardized scores on a graded continuum for operational definitions of nasal alar hypoplasia, a commonly observed feature of this condition.
Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity.
This report provides a worked example of quantitative anthropometric assessment in the context of a case report, using tools that may find general application in clinical genetics.
在此，我们将客观、可靠的畸形诊断方法应用于一名患有乔汉森-布莱兹德综合征（MIM #243800）的患者。利用一个广泛的正常数据库，我们针对鼻翼发育不全的操作性定义（该病症常见特征），在分级连续体上计算标准化分数。
该病例中的大多数测量值比根据年龄、性别和种族调整后的平均值低2个标准差以上。
本报告提供了一个病例报告背景下定量人体测量评估的实例，所使用的工具可能在临床遗传学中得到广泛应用。
