手足镜像重复畸形：1例合并多种先天性畸形的散发病例报告
Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies.
作者信息
Hersh J H, Dela Cruz T V, Pietrantoni M, von Drasek-Ascher G, Turnquest M A, Yacoub O A, Joyce M R
机构信息
Department of Pediatrics, University of Louisville, Kentucky, USA.
出版信息
Am J Med Genet. 1995 Nov 20;59(3):341-5. doi: 10.1002/ajmg.1320590312.
Mirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients.
手足镜像重复是一种罕见的情况。根据之前的3份报告，其表现包括鼻异常、尺骨和腓骨重复、胫骨发育不全以及手足镜像重复。我们报告了1例散发病例，其中镜像重复与多种先天性异常相关。尽管这些病例可能代表同一显性遗传的复杂多指（趾）畸形综合征的不同表现形式，但手足镜像重复有可能是多种不同临床病症共有的一种表现。在肢体芽发育过程中，极化活性区相对于顶外胚层嵴的重复和异常定位可能是这些患者手足出现解剖学异常的原因。
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