Tsukahara M, Uchida M, Shinohara T
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Am J Med Genet. 1995 Oct 23;59(1):59-61. doi: 10.1002/ajmg.1320590113.
A new autosomal dominant syndrome resembling craniofrontonasal syndrome was identified by Teebi [1987: Am J Med Genet 28:581-591]. We report on an additional case of Teebi hypertelorism syndrome. A 6-year-old girl presented with brachycephaly, peculiar facial appearance resembling mild frontonasal "dysplasia", small hands and feet with interdigital webbing. In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum. These seem to expand the phenotype of Teebi hypertelorism syndrome. The proposita's father had mild manifestations of the condition including flat occiput, widow's peak, small ears, bulbous nose, brachydactyly with interdigital webbing, and mild shawl scrotum.
蒂比[1987年：《美国医学遗传学杂志》28:581 - 591]发现了一种类似于颅额鼻综合征的新常染色体显性综合征。我们报告了另外一例蒂比睑裂增宽综合征病例。一名6岁女孩表现为短头畸形、面部外观奇特，类似轻度额鼻“发育异常”，手脚小且有指间蹼。此外，她还有此前未描述的表现，包括室间隔缺损、枕部脂肪瘤和小脑左半球发育不全。这些似乎扩展了蒂比睑裂增宽综合征的表型。先证者的父亲有该病症的轻度表现，包括枕部扁平、美人尖、小耳朵、球根状鼻、伴有指间蹼的短指以及轻度阴囊象皮肿。
