Zenteno J C, Venegas C, Kofman-Alfaro S
Servicio de Genética, Hospital General de México-Facultad de Medicina UNAM, Mexico City, México.
Pediatr Dermatol. 1999 Mar-Apr;16(2):103-7. doi: 10.1046/j.1525-1470.1999.99009.x.
Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.
几种临床病症合并了外胚层发育不良(ED)和唇裂和/或腭裂(CL/P)。这些病症已被确认为一组具有狭窄表型谱和多个重叠点的疾病。我们报告了一名临床诊断为AEC综合征(睑缘粘连、外胚层缺陷和CL/P)的患者,该患者还具有在另一种ED-CL/P病症——鲍恩-阿姆斯特朗综合征中观察到的一些特征。由于这种临床重叠,我们认为AEC综合征和鲍恩-阿姆斯特朗综合征可能是同一病理实体的不同表现形式。