A review of the physical features of the fetal alcohol spectrum disorders

被引:70
作者
del Campo, Miguel [1 ]
Jones, Kenneth Lyons [1 ]
机构
[1] Univ Calif San Diego, Dept Pediat, Div Dysmorphol & Teratol, San Diego, CA 92103 USA
关键词
FAS; FASD; Dysmorphology; Diagnostic guidelines; FACIAL PHENOTYPE; SCREENING TOOL; DIAGNOSIS; EXPOSURE; PREVALENCE; CHILDREN; INDIVIDUALS; DYSMORPHISM; PROVINCE; SAMPLE;
D O I
10.1016/j.ejmg.2016.10.004
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (FAS) and partial pFAS. Moreover, these features are specific and a diagnosis of FAS can be made even in the absence of knowledge of PAE. Not only growth deficits, microcephaly and the 3 facial features (short palpebral fissures, smooth philtrum and narrow vermillion of the upper lip) are characteristic, since other dysmorphic features particularly in the hands are key to the recognition of FAS. Most features can be explained by the damage to the brain during pregnancy and can be replicated in animal models. Many different diagnostic guidelines are used for the diagnosis of FASD and the physical features are considered differently in each of them. There is a need for universal clinical criteria for the diagnosis of FASD if our goal is to favor universal recognition. (C) 2016 Published by Elsevier Masson SAS.
引用
收藏
页码:55 / 64
页数:10
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