BACKGROUND: From the standpoint of normal embryologic development, the palpebral fissures are generally considered to be determined by and dependent on the underlying optic vesicles, outpouchings of the frontal area of the developing fetal brain. It has been suggested that short palpebral fissures are a reflection of an underlying defect in specific areas of forebrain development. Alternatively, short palpebral fissures, seen in a number of multiple malformation syndromes associated with small occipitofrontal circumference (OFC), such as the fetal alcohol syndrome (FAS), might be proportionally small as a reflection of the microcephaly. The purpose of this study was to examine whether short palpebral fissures are independent of or determined by the OFC. METHODS: Age-specific palpebral fissure length (PFL) and OFC centiles were correlated in 273 children with FAS, 272 children with some features of FAS, and 385 children with no structural features characteristic of FAS. RESULTS: The OFC and PFL centiles demonstrated a statistically significant but weak correlation in all three study groups. Among children with FAS, only 10.2% of the total variation in PFL could be accounted for by OFC (p = 0.0001). A similar pattern was observed for children with some features of FAS (r(2) = 0.142; p = 0.0001) and children with no structural features of FAS (r(2) = 0.110; p = 0.0001). CONCLUSIONS: Palpebral fissure length is predominately independent of occipitofrontal circumference in children with and without features of FAS. Short palpebral fissures may well reflect a defect in forebrain development rather than being proportionally reduced in size as a reflection of microcephaly. Birth Defects Research (Part A) 2009. (c) 2009 Wiley-Liss, Inc.
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机译：背景：从正常胚胎学发展的角度来看，睑裂通常被认为是由并取决于潜在的视神经囊泡，发育中的胎儿脑额叶的外袋。有人指出，短睑裂是前脑发育特定区域内潜在缺陷的反映。或者，在与枕小前围（OFC）相关的多种畸形综合症（如胎儿酒精综合症（FAS））中看到的短睑裂可能会成比例地变小，以反映小头畸形。本研究的目的是检查短睑裂是否独立于OFC或由OFC确定。方法：年龄特定的睑裂长度（PFL）和OFC百分位数与273例FAS儿童，272例具有FAS特征的儿童和385例无FAS特征的儿童相关。结果：在所有三个研究组中，OFC和PFL百分位数均显示出统计学显着性，但相关性较弱。在患有FAS的儿童中，OFC只能解释PFL总变异的10.2％（p = 0.0001）。对于具有FAS某些特征的儿童（r（2）= 0.142; p = 0.0001）和没有FAS具有结构特征的儿童（r（2）= 0.110; p = 0.0001），也观察到了类似的模式。结论：对于有或没有FAS特征的患儿，睑裂长度主要独立于枕额周长。短的睑裂可能很好地反映了前脑发育的缺陷，而不是由于小头畸形而按比例缩小了。出生缺陷研究（A部分）2009。（c）2009 Wiley-Liss，Inc.
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