Heike Carrie L, Wallace Erin, Speltz Matthew L, Siebold Babette, Werler Martha M, Hing Anne V, Birgfeld Craig B, Collett Brent R, Leroux Brian G, Luquetti Daniela V
Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.
Seattle Children's Research Institute, Seattle, Washington.
Birth Defects Res A Clin Mol Teratol. 2016 Nov;106(11):915-926. doi: 10.1002/bdra.23560.
Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features.
Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires.
The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21).
We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.
颅面短小畸形（CFM）是一种先天性疾病，具有广泛的表型变异性，包括下颌骨和外耳发育不全。我们组建了一个队列，其中包括具有CFM谱系面部特征的儿童以及无已知颅面异常的儿童。我们试图开发一种标准化方法，以评估和描述该研究队列的面部特征，利用在这项纵向研究过程中收集的多种信息来源，并创建具有共同表型特征的病例亚组。
参与者于1996年至2002年入组。我们根据照片、使用改良版眼眶、耳朵、下颌骨、神经、软组织（OMENS）图像系统进行的评分、病历摘要数据以及健康史问卷对面部表型进行分类。
参与者样本包括142例病例和290名对照。平均年龄为13.5岁（标准差1.3岁；范围11.1 - 17.1岁）。61%的病例为男性，74%为非西班牙裔白人。在病例中，最常见的特征是小耳畸形（66%）和下颌骨发育不全（50%）。具有有意义分组定义的病例亚组包括：（1）无其他CFM相关特征的小耳畸形（n = 24），（2）伴有下颌骨发育不全的小耳畸形（n = 46），（3）CFM相关面部特征的其他组合（n = 51），以及（4）非典型特征（n = 21）。
我们开发了一种标准化方法，用于整合多种数据源以对CFM个体进行表型分析，并基于具有临床意义的共同特征创建亚组。我们希望该系统可用于探索CFM儿童的表型与临床结局之间的关联，并确定CFM的病因。《出生缺陷研究（A部分）》106:915 - 926，2016。©2016威利期刊公司
