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一名29岁女性患弗里曼-谢尔登综合征,表现出罕见且此前未描述过的特征。

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.

作者信息

Chamberlain Robert L, Poling Mikaela I, Portillo Augusto L, Morales Andrés, Ramirez Rigoberto R T, McCormick Rodger J

机构信息

Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.

出版信息

BMJ Case Rep. 2015 Oct 22;2015:bcr2015212607. doi: 10.1136/bcr-2015-212607.

Abstract

Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients.

摘要

本文描述了一例弗里曼-谢尔顿综合征(FSS)中出现的先前未报道的特征;这些明显未报道的特征可能会为当前的治疗和进一步研究提供重要信息。虽然FSS主要被认为是一种颅面综合征,但官方将其描述为一种肌病性远端关节挛缩症。临床诊断需要小口畸形、吹口哨样面容(撅嘴)、H形下巴酒窝、鼻唇沟以及手脚两处或更多挛缩。脊柱畸形、代谢和胃肠问题、其他颅面畸形特征以及视觉和听觉障碍是常见的发现。鉴别诊断包括:1型、2B型(谢尔顿-霍尔综合征)和3型远端关节挛缩症;先天性多发性关节挛缩症和孤立的非综合征性畸形。其表达通常源于新的等位基因变异。对于遗传学家、新生儿科医生、儿科医生、整形外科医生和其他人员来说,促进患者有意义地克服功能限制并康复的合理机会具有重要意义。尽管存在复杂性和并发症,但早期颅面手术和积极的肢体挛缩物理治疗可为患者带来良好的效果。

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