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Abstract：
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.
摘要：
Barber-Say综合征（BSS）和下咽-大口综合征（AMS）是由TWIST2中的杂合突变引起的先天性畸形综合征。在这里，我们提供了对所有发表这些综合征的患者的严格审查。由于误诊或数据不足以可靠确认诊断，我们排除了一些早期报告。仍有16名可靠诊断的BSS患者和16名AMS患者。两个实体中存在的主要面部特征，尽管通常频率不同，是过度的面部皱纹，超端粒,眼睑前部（前层）发育不足，外翻,宽阔的鼻脊和鼻尖，浓密而耀眼的鼻翼，突出的上颌骨,宽嘴巴,稀薄的上朱红色，和附加的耳垂。在BSS中，可以看到小柱在philtrum上的显着扩展，并且在脸颊的两个中间部分都向嘴角凸出（脸颊垫）。头皮毛发仅在AMS中稀疏，但是稀疏的眉毛和睫毛出现在这两个实体中，一般多毛症发生在BSS中。我们将这些特征与也可能由TWIST2突变引起的Setleis综合征的特征进行了比较。这三种综合症之间的相似之处是相当大的，和可能的差异似乎比他们实际是由于不够完整的评估三个实体的所有特征在过去。很可能随着时间的推移，可以得出结论，BSS。AMS和Setleis综合征形成一个连续体。©2016威利期刊，Inc.
