Shieh Joseph T C, Aradhya Swaroop, Novelli Antonio, Manning Melanie A, Cherry Athena M, Brumblay Janet, Salpietro Carmelo D, Bernardini Laura, Dallapiccola Bruno, Hoyme H Eugene
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.
Am J Med Genet A. 2006 Jun 15;140(12):1267-73. doi: 10.1002/ajmg.a.31262.
In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a strikingly similar phenotype, was previously described in a report by Salpietro et al. 2003. She has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of malformation was not identified at that time. Although high-resolution chromosome and subtelomeric FISH analyses were normal, array-based comparative genomic hybridization revealed an approximately 4 Mb deletion involving the 8q21.3-8q22.1 region in both patients. This region encompasses a number of genes that may contribute to this unique phenotype. These results demonstrate a chromosomal microdeletion as the etiology of Nablus mask-like facial syndrome and emphasize the diagnostic utility of array-based comparative genomic hybridization in the evaluation of multiple malformation syndromes of previously unrecognized causation.
2000年，蒂比报道了一名患有独特畸形模式的4岁男孩，他将其称为“纳布卢斯面具样面部综合征”（OMIM#608156）。由于医学文献中描述的患者数量稀少且其病因和发病机制不明，对该综合征的特征描述一直很困难。我们报告了两名患有纳布卢斯面具样面部综合征的患者，通过基于阵列的比较基因组杂交检测到他们在8q21 - 8q22区域均存在微缺失。患者1是一名男孩，面部外观独特，表现为严重的睑裂狭小、面部皮肤紧绷发亮、头发稀疏且杂乱、鼻子扁平宽阔，以及形状呈三角形且耳轮突出的独特耳朵。他还表现出屈曲指、挛缩、异常牙列、隐睾、轻度发育迟缓以及愉快的神情。患者2是一名女孩，具有极为相似的表型，此前在萨尔皮耶特罗等人2003年的一篇报告中已有描述。她有独特的耳朵、牙齿异常和发育迟缓。当时未确定她畸形模式的病因。尽管高分辨率染色体和亚端粒荧光原位杂交分析结果正常，但基于阵列的比较基因组杂交显示两名患者均存在一个约4 Mb的缺失，涉及8q21.3 - 8q22.1区域。该区域包含许多可能导致这种独特表型的基因。这些结果证明染色体微缺失是纳布卢斯面具样面部综合征的病因，并强调了基于阵列的比较基因组杂交在评估先前未识别病因的多种畸形综合征中的诊断效用。
