关键词: CNLDO Rubinstein–Taybi syndrome lacrimal nasolacrimal duct ocular

Mesh : Endoscopy Eye Abnormalities / diagnosis Humans Infant Lacrimal Duct Obstruction / congenital diagnosis Male Nasolacrimal Duct / abnormalities Rubinstein-Taybi Syndrome / diagnosis

来  源:   DOI:10.1080/01676830.2018.1515961

Abstract:
Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. Lacrimal drainage anomalies are not uncommon in this syndrome. We present a patient with Rubinstein-Taybi syndrome with bilateral congenital nasolacrimal duct obstruction and left-sided grossly dilated nasolacrimal duct.
摘要:
Rubinstein-Taybi综合征是一种罕见的多系统疾病,其特征是大拇指和第一脚趾。身材矮小,小头畸形,延迟的里程碑,喙鼻,和超端粒。泪液引流异常在这种综合征中并不少见。我们介绍了一名患有双侧先天性鼻泪管阻塞和左侧鼻泪管严重扩张的Rubinstein-Taybi综合征患者。
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