Zvulunov A, Kachko L, Manor E, Shinwell E, Carmi R
Department of Dermatology, Soroka Medical Center, Ben Gurion University, Beer Sheva, Israel.
Br J Dermatol. 1998 Jun;138(6):1046-52. doi: 10.1046/j.1365-2133.1998.02277.x.
A distinct form of aplasia cutis congenita presenting as linear facial skin defects has been described under a variety of names as Xp deletion syndrome. MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, MLS (microphthalmia and linear skin defects) and Gazali-Temple syndrome. The syndrome is lethal in males, and its severity in females varies from a relatively mild residual facial scarring with short stature to lethal developmental organ malformations. A new case with peculiar ultrastructural findings is presented. A review of the literature suggests that these associations represent a series of contiguous-gene syndromes.
一种表现为面部线状皮肤缺损的先天性皮肤发育不全的独特形式，曾以多种名称被描述，如Xp缺失综合征、MIDAS（小眼畸形、皮肤发育不全和角膜巩膜化）综合征、MLS（小眼畸形和线状皮肤缺损）以及加扎利 - 坦普尔综合征。该综合征在男性中是致死性的，在女性中的严重程度各不相同，从伴有身材矮小的相对轻微的面部残余疤痕到致死性的发育器官畸形。本文报告了1例具有特殊超微结构表现的新病例。文献综述表明，这些关联代表了一系列相邻基因综合征。
