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患有“龙虾爪”足的女性。

Lady with 'lobster claw' feet.

作者信息

Aman Amani, Darby Louis, Rahmani Muhammad Javaid Hameed

机构信息

Department of health and Ageing, Conquest Hospital, East Sussex Healthcare Trust, St Leonards on Sea, UK.

King's College London School of Medical Education, London, UK.

出版信息

BMJ Case Rep. 2018 Oct 8;2018:bcr-2018-226368. doi: 10.1136/bcr-2018-226368.

DOI:10.1136/bcr-2018-226368
PMID:30301730
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6194423/
Abstract

A 94-year-old woman admitted with confusion secondary to a urinary tract infection exhibited deformities in all four limbs that were present from birth. Her appearance was suggestive of split hand/split foot malformation a rare congenital condition that affects the central rays of the distal limb portion. She had no syndromic features and had lived without support or assistance of her daily activities. A keen knitter, she regularly knitted for her three grandchildren, all of which, along with her son, were unaffected by this condition.

摘要

一名94岁女性因尿路感染继发意识模糊入院,其四肢均有自出生就存在的畸形。她的外貌提示为裂手/裂足畸形,这是一种罕见的先天性疾病,影响肢体远端的中央射线。她没有综合征特征,日常生活无需他人支持或协助。她热衷于编织,经常为她的三个孙子孙女编织衣物,她的孙子孙女以及她的儿子均未受此病影响。

相似文献

1
Lady with 'lobster claw' feet.患有“龙虾爪”足的女性。
BMJ Case Rep. 2018 Oct 8;2018:bcr-2018-226368. doi: 10.1136/bcr-2018-226368.
2
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature.胎儿10q24.3染色体微重复的产前诊断与遗传咨询:1例报告并文献复习
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Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.手/足部分缺如并伴有长骨发育不良的分裂手/足畸形:病例报告及文献复习。
BMC Med Genet. 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2.
4
Split hands and feet.手足裂
S Afr Med J. 1975 Oct 18;49(44):1842-4.
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Heredofamilial cleft foot deformity (lobster-claw foot or split foot).遗传性家族性裂足畸形(龙虾爪足或裂足)。
Am J Surg. 1947 Dec;74(6):889-92. doi: 10.1016/0002-9610(47)90419-4.
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Lobster claw deformity.
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Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.成骨细胞特异性母源印记基因DLX5和DLX6的表达缺失会导致I型裂手/裂足畸形。
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THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET.唇裂、腭裂及手足龙虾爪样畸形综合征
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Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).手足裂畸形(裂手/裂足)发病机制与治疗的见解
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本文引用的文献

1
Bilateral split hand foot malformation in siblings: Case series.兄弟姐妹中的双侧裂手裂足畸形:病例系列
Int J Surg Case Rep. 2018;44:114-117. doi: 10.1016/j.ijscr.2017.12.030. Epub 2017 Dec 27.
2
Split-hand/feet malformation: A rare syndrome.裂手/裂足畸形:一种罕见的综合征。
J Family Med Prim Care. 2016 Jan-Mar;5(1):168-9. doi: 10.4103/2249-4863.184656.
3
Split-hand/foot malformation - molecular cause and implications in genetic counseling.裂手/裂足畸形——分子病因及在遗传咨询中的意义
J Appl Genet. 2014 Feb;55(1):105-15. doi: 10.1007/s13353-013-0178-5. Epub 2013 Oct 27.
4
Ectrodactyly/split hand feet malformation.缺指(趾)畸形/裂手裂足畸形
Indian J Hum Genet. 2009 Sep;15(3):140-2. doi: 10.4103/0971-6866.60191.
5
Pathogenesis of split-hand/split-foot malformation.裂手/裂足畸形的发病机制。
Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. doi: 10.1093/hmg/ddg090.