Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
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DOI：
10.1002/ajmg.a.37757
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发表时间：
2016-08-01
影响因子：
2
通讯作者：
Hennekam, Raoul C.
中科院分区：
文献类型：
--
作者：
De Maria, Beatrice;Mazzanti, Laura;Hennekam, Raoul C.
Barber-Say综合征（BSS）和Ablepharon-Macrostomia综合征（AMS）是由TWIST2基因杂合突变引起的先天性畸形综合征。在这里，我们对所有发表的患有这些综合征的患者进行了综述。我们排除了一些早期的报告，因为误诊或缺乏可靠的诊断确认数据。仍有16例可靠诊断为BSS和16例AMS。这两种人的主要面部特征，尽管频率不同，包括面部褶皱过多、远视、眼睑前部（前板）发育不全、外翻、鼻脊和鼻尖宽、鼻翼厚而突出、上颌骨突出、口宽、上朱砂薄、耳垂附着。在BSS中可见明显的小柱延伸，双颊内侧向嘴角凸起（颊垫）。仅AMS患者头皮毛发稀疏，但两种疾病均出现眉毛和睫毛稀疏，BSS患者出现全身多毛。我们将这些特征与同样由TWIST2突变引起的Setleis综合征进行比较。这三种症状之间的相似之处是相当大的，而且由于过去对这三种实体的所有特征的评估不够完整，可能的差异似乎比实际更大。随着时间的推移，很可能可以得出BSS。AMS和Setleis综合征形成一个连续体。(c) 2016 Wiley Periodicals, Inc.；
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. (c) 2016 Wiley Periodicals, Inc.