WebApr 10, 2024 · 一个月后结果出来了，Coffin-Siris综合征。 当我在各大网站搜索后基本是一无所获，罕见病这是当时徘徊在我脑海里的三个字，但是不管怎么样我们要面对现实， … WebCoffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1-associated factors) chromatin ...
Coffin-Siris Syndrome - PubMed
WebThe eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. WebCoffin–Siris syndrome. Coffin-Siris syndrome. 16-year-old boy with mutations in the ARID1B gene. Coffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, [1] is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991. [2] map of east morton west yorkshire
案例分享 罕见病基因诊断——Coffin-Siris综合征 - 知乎
WebAug 12, 2024 · Clinical characteristics: Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can … WebAbstract. Coffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and … WebSyndrome de Coffin-Siris Définition Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une aplasie ou une hypoplasie de la phalange distale ou de l'ongle du cinquième doigt, un retard de développement, des traits de visage plutôt grossiers, ainsi que d'autres manifestations cliniques variables. map of east memphis