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四肢并指(趾)畸形、缩窄环及皮赘;羊膜带或类似肢体结构紊乱综合征。

Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.

作者信息

O'Driscoll Mary, Peckham Clarie, Kerr Bronwyn

机构信息

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

出版信息

Clin Dysmorphol. 2008 Oct;17(4):255-8. doi: 10.1097/MCD.0b013e328310e07d.

DOI:10.1097/MCD.0b013e328310e07d
PMID:18978653
Abstract

We present a female infant with a combination of finger duplication, amniotic band-like constrictions and extensive syndactyly affecting all four limbs with skin tags. No facial dysmorphic features nor associated malformations were present. Growth and development was normal and there was no family history of congenital abnormalities. The presence of constriction band-like regions on the hands and absent or hypoplastic digits suggests the amniotic deformity, adhesion and mutilation complex. Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient.

摘要

我们报告了一名女婴,其存在手指重复、羊膜带样缩窄以及累及四肢且伴有皮赘的广泛并指畸形。未发现面部畸形特征或相关畸形。生长发育正常,且无先天性异常家族史。手部存在缩窄带样区域以及指缺如或发育不全提示为羊膜畸形、粘连和残缺综合征。小鼠基因紊乱基因的人类同源基因发生突变也可能是该患者出现缩窄/重复异常并伴有远处皮赘的机制。

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