Pierre Robin sequence and keratoconus, a rare association

Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, S. González-Ocampo
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引用次数: 0

Abstract

Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and 14,000 people and is characterized by a triad of clinical signs. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft. PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment. Because of the clinical importance of PRS, it is critical to illustrate the features of the Robin sequence to clearly define its primary and secondary clinical signs. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.
Pierre Robin序列与圆锥角膜罕见的关联
皮埃尔·罗宾综合征(PRS)是一种遗传性疾病,每8500到14000人中就有1人患有这种疾病,其特点是有三种临床症状。这些症状包括小颌畸形、舌下垂和上呼吸道阻塞,通常与腭裂有关。PRS还与多种眼部并发症有关,包括高度先天性近视、先天性青光眼和视网膜脱离。由于PRS的临床重要性,阐明Robin序列的特征以明确其主要和次要临床体征至关重要。我们描述了一位患有PRS的患者,他发展为圆锥角膜,这是一种罕见的疾病表现及其管理。
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