Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
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DOI：
10.1002/ajmg.c.31966
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发表时间：
2022-03
影响因子：
3.1
通讯作者：
Gunay-Aygun, Meral
中科院分区：
文献类型：
--
作者：
Forsyth, RaeLynn;Parisi, Melissa A.;Altintas, Burak;Malicdan, May Christine;Vilboux, Thierry;Knoll, Jasmine;Brooks, Brian P.;Zein, Wadih M.;Gahl, William A.;Toro, Camilo;Gunay-Aygun, Meral
Joubert综合征(JS)是一种神经发育障碍，以肌张力低下和发育迟缓为特征，在脑成像上可见强制性磨牙征象。由于低眼压和发育迟缓是非特异性特征，因此必须高度怀疑JS的临床，以便获得与JS相关的>；38基因的诊断性脑成像和/或分子检测。这项研究的目的是分析一组JS患者的临床照片，以确定应该促使JS调查的体检特征列表。对94名JS患者的照片进行分析后发现，JS患者的面部特征有一种可识别的模式，这种模式会随着个体年龄的增长而变化。巨头畸形、直视时头部倾斜、眼球运动异常(动眼失用、眼球震颤、斜视)和上睑下垂在JS患者中很常见。年龄较小的儿童的明显特征包括三角形张开的嘴并有舌头突出；在较大的儿童和成人中，下颌前突和突出的鼻梁是常见的。
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a high level of clinical suspicion of JS so that the diagnostic brain imaging and/or molecular testing for the >38 genes associated with JS is/are obtained. The goal of this study was to analyze clinical photographs of a cohort of patients with JS to define a list of physical examination features that should prompt investigation for JS. Analysis of photographs from 94 individuals with JS revealed that there is a recognizable pattern of facial features in JS that changes over time as individuals age. Macrocephaly, head tilting even when looking straight ahead, eye movement abnormalities (oculomotor apraxia, nystagmus, strabismus), and ptosis are common in those with JS. Distinctive features in younger children include triangular-shaped open mouth with tongue protrusion; in older children and adults, mandibular prognathia and prominent nasal bridge are common.
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DOI：
10.2215/cjn.05660517
发表时间：
2017-12-07
影响因子：
9.8
作者：
Fleming, Leah R.;Doherty, Daniel A.;Gunay-Aygun, Meral
通讯作者：
Gunay-Aygun, Meral
影响因子：
2
作者：
Braddock, Stephen R.;Henley, Kimberly M.;Maria, Bernard L.
通讯作者：
Maria, Bernard L.
影响因子：
1.8
作者：
Johnston, Jennifer J.;Lee, Chanjae;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.
影响因子：
4
作者：
通讯作者：
--
影响因子：
8.8
作者：
Vilboux, Thierry;Doherty, Daniel A.;Gunay-Aygun, Meral
通讯作者：
Gunay-Aygun, Meral