努南综合征的先天性外翻

M. Dorronsoro, M. Bertino, J.M. Suarez, G.J. Morocho Hermosa, S.J. Vivante, J.P. Aldecoa
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引用次数: 0

摘要

病例报告十岁的女患者面部畸形、脊柱侧弯、身材矮小、肌张力低下、卵圆孔未闭和发育迟缓,前来接受双侧先天性眼睑外翻矫正术。眼科检查发现她双侧下眼睑外翻、眼睑外翻和眼睑下垂,贝尔现象阳性。她接受了下眼睑全厚自体皮肤移植手术和双侧眼睑外翻成形术,解决了眼睑外翻问题,并改善了眼睑闭合。讨论努南综合征是一种多系统遗传性疾病,具有多种表型,通常表现为眼部和眼周疾病。眼睑外翻是该患者的一个显著特征,是该综合征的一种罕见眼部表现,可以通过全厚皮肤移植和外侧眼睑成形术进行矫正。
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Ectropión congénito en síndrome de Noonan

Case report

Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell's phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome.

Discussion

Noonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty.

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来源期刊
CiteScore
1.20
自引率
0.00%
发文量
109
审稿时长
78 days
期刊介绍: La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.
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