The face of Joubert syndrome: A study of dysmorphology and anthropometry
The face of Joubert syndrome: A study of dysmorphology and anthropometry
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DOI：
10.1002/ajmg.a.32099
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发表时间：
2007-12-15
影响因子：
2
通讯作者：
Maria, Bernard L.
中科院分区：
文献类型：
--
作者：
Braddock, Stephen R.;Henley, Kimberly M.;Maria, Bernard L.
Joubert综合征（JS）是一种常染色体隐性遗传疾病，以小脑蚓部发育不全、肌张力减退、发育迟缓、呼吸暂停/呼吸过度和眼科异常为特征。自从它被描述以来，大多数注意力都集中在后脑畸形和轴向磁共振成像（MRI）上显示的标志性磨牙征（NITS）上。很少有报道描述了JS的特征性临床表型，大量患者未接受畸形学检查。此外，很少有人知道其他条件，共享的一些临床和放射学特征的JS，包括，Arima，Senior-Loken，Dekaban，COACH，和Varadi（OFD VI）综合征。本研究的目的是记录Joubert综合征的形态学特征的基础上详细的畸形和人体测量学检查在一个大的队列的JS个人，以确定JS是否与特定模式的畸形。形态异常包括长脸、额突、双颞部狭窄、上睑下垂、鼻梁和鼻尖突出、下颌畸形、眉毛异常、梯形嘴、下唇外翻和耳垂厚。人体测量分析显示，包括bizygomatic，额，鼻，下颌尺寸测量几个显着差异。与对照组相比，年轻的JS患者面部宽度显着增加，而老年患者下颌弧长较长。这些数据表明，JS缺乏一个明确的，具体的可识别的畸形模式，尽管与几个畸形的面部特征和不同的人体测量面部模式，随着年龄的变化。JS和其他后脑综合征特征的变异性和重叠使得临床诊断困难，可能反映了NITS患者队列中的遗传异质性。(C)2007 Wiley-Liss，Inc.
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay, apnea/hypernea and ophthalmologic abnormalities. Since its description, most attention has focused on hindbrain malformations and the hallmark molar tooth sign (NITS) when visualized on axial magnetic resonance imaging (MRI). Few reports have described a characteristic clinical phenotype of JS and a large cohort of patients has not undergone dysmorphology examinations. In addition, very little is known about other conditions which share some of the clinical and radiological features of JS, including, Arima, Senior-Loken, Dekaban, COACH, and Varadi (OFD VI) syndromes. The purpose of this study was to document the morphologic characteristics of Joubert syndrome based upon detailed dysmorphology and anthropometric examinations in a large cohort of JS individuals to determine whether JS is associated with a specific pattern of malformation. Dysmorphology findings included long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid shaped mouth, lower lip eversion, and thick ear lobes. Anthropometric analyses showed several significant differences in measurements including bizygomatic, frontal, nasal, and mandibular dimensions. When compared to controls, younger JS patients had significantly increased facial widths whereas older patients had longer mandibular arc lengths. These data indicate that JS lacks a clear, specific recognizable pattern of malformation, despite being associated with several dysmorphic facial characteristics and distinct anthropometric facial patterns, which change with age. Variability and overlap of features in JS and other hindbrain syndromes makes clinical diagnosis difficult and probably reflects genetic heterogeneity within the cohort of patients with the NITS. (C) 2007 Wiley-Liss, Inc.