WebSep 1, 2024 · 1. Introduction. Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a rare congenital oculofacial disorder inherited in an autosomal dominant pattern, with an estimated global prevalence of 1 in 50,000 births [1, 2].The diagnosis of BPES is primarily made by the presence of a combination of typical oculofacial features and … WebThe Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Explore symptoms, inheritance, genetics of this condition.

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Webblepharophimosis的中文意思：睑裂狭小…，查阅blepharophimosis的详细中文翻译、例句、发音和用法等。 blepharophimosis中文_blepharophimosis是什么意思 繁體版 … WebBPES stands for Blepharophimosis Ptosis Epicanthus Inversus Syndrome. People with this rare condition have four physical characteristics of the eyes that are present at birth. The four conditions are: Epicanthus Inversus - … Web『欧路词典』为您提供blepharophimosis的用法讲解，告诉您准确全面的blepharophimosis的中文意思，blepharophimosis的读音，blepharophimosis的同 … is aphasia treatable