Dysmorphology Core (U24 Core)

描述(由申请人提供)：胎儿酒精谱系障碍(FASD)的诊断依赖于对畸形模式的识别，包括生长和神经行为发育的改变以及一系列特定的轻微颅面异常。由于产前酒精暴露所特有的神经行为表型尚未确定，因此在缺乏临床表型的情况下目前还不可能诊断FASD。这将是畸形核心的责任，以确保准确和一致的诊断FASD的儿童在所有联合体地点，通过实施一个标准方案的基础上的临床表型文件，将在所有地点使用。由于该联盟将整合来自世界各地不同地点的调查人员，因此必须有一个在产前接触酒精的儿童的评估方面具有丰富经验的一小部分核心个人负责在所有地点诊断FASD。 对不同年龄段的大量FASD儿童进行识别，每个人都接受了标准化的临床评估，这将提供机会对与临床表型有关的各种问题有新的认识，包括疾病的各种结构缺陷，可预测神经行为发育变化的身体特征，应该在多大程度上利用生长缺陷来提高诊断的特异性而不损失敏感性，并将提供机会制定策略，在新生儿期诊断这种疾病。

DESCRIPTION (provided by applicant): Diagnosis of the Fetal Alcohol Spectrum Disorder (FASD) is dependent on the identification of a pattern of malformation including alterations in growth and neurobehavioral development as well as a constellation of specific minor craniofacial anomalies. In that a neurobehavioral phenotype specific for prenatal alcohol exposure has not yet been identified, it is presently not possible to diagnose FASD in the absence of the clinical phenotype. It will be the responsibility of the Dysmorphology Core to assure accurate and consistent diagnosis of FASD in children at all consortium sites through implementation of a standard protocol based on documentation of the clinical phenotype which will be used at all sites. In that this consortium will integrate investigators from different sites throughout the world, it is imperative to have a small core of individuals with extensive experience in evaluation of children prenatally exposed to alcohol responsible for diagnosis of FASD at all sites. Identification of large numbers of children with FASD at various ages, each of whom has received a standardized clinical evaluation will provide the opportunity to gain new insight into a variety of issues relating to the clinical phenotype including the full range of structural defects in the disorder, physical features that are predictive of alterations in neurobehavioral development, the extent to which degrees of growth deficiency should be used to enhance specificity of diagnosis without loss of sensitivity, and will provide the opportunity to develop strategies to diagnose this disorder in the newborn period.