基于多模态MRI图像的耳软骨模型构建

构建高保真的耳软骨支架一直是耳廓再造的研究核心。传统成像方法对耳软骨和周围组织的区分度较低,为探究可用于耳软骨成像的MRI扫描序列,为耳软骨3D生物打印提供高精度模型,提出超短回波时间(UTE)成像和3D_T2成像序列相结合的扫描方案。实验共收集40位健康志愿者单侧外耳廓数据。首先,两位有经验的评估者分别根据UTE图像逐层勾勒出耳软骨大致形状,并根据3D_T2图像进一步去除耳垂等其他组织,以此构建耳软骨模型。每名评估者独立重复3次。然后,分析评估者内和评估者间耳软骨分割结果的体积(Cg.V)、表面积(Cg.S)和厚度(Cg.Th)的相关性, 以评价不同评估者是否可以定义相同的感兴趣区域。结果显示,评估者内手动分割结果的精度误差分别为:Cg.V≤3.05%,Cg.S≤1.80%,Cg.Th≤3.43%,评估者间分别为:Cg.V=2.39%,Cg.S=3.75%,Cg.Th=3.37%;Cg.V、Cg.S和Cg.Th的组内相关性分别高于0.95、0.97、0.77,组间相关性分别为0.97、0.89和0.69;Dice相似性系数(DSC)均高于80%。这表明,超短回波时间和3D_T2成像序列结合能够表征耳软骨的形态学差异,是适合耳廓再造研究的扫描方案,可为3D生物打印提供高精度的耳软骨模型。     

核磁共振超短回波时间序列技术研究进展

核磁共振成像（MRI）技术拥有良好的软组织分辨率且无电离辐射,在临床和科研方面均得到了广泛应用。超短回波时间序列（UTE）在一定程度上弥补了MRI在短T2组织成像的弱点,使MRI的应用更加广泛。由UTE得到的派生序列有脂肪抑制UTE、单绝热反转恢复UTE、双回波差UTE等。本文介绍核磁共振超短时间回波序列（MR-UTE）技术的发展、原理及其应用,并对MR-UTE技术的发展方向进行展望。     

正常膝关节软骨MRI T_1ρ序列表现初步研究

目的比较正常膝关节软骨MRIT1ρ和三维抑脂扰相梯度回波(3D-FS-SPGR)序列表现,研究T1ρ序列应用于软骨评估的可行性;评估软骨深层与浅层MRIT1ρ值的差异。方法选择经临床和影像确认的26例成年志愿者,其中男性11例,女性15例;年龄15~65岁,平均年龄31.69岁。分析其T1ρ和3D-FS-SPGR序列MRI成像表现。将膝关节软骨划分为髌软骨、髁间窝、股骨内外侧髁、胫骨内外侧平台6个部分。测量相同层面与位置的T1ρ第一回波和3D-FS-SPGR图像上软骨、软骨下骨、背景噪声的信号强度,比较两者的软骨与软骨下骨对比度比(CNR)和软骨信噪比(SNR)。选取6个部位软骨最厚处,把该处软骨厚度等分为深层和浅层,分别测量同像素感兴趣区(ROI)的T1ρ值。对以上数据进行配对t检验,以P0.05为差异有统计学意义。结果①膝关节T1ρ序列第一回波图像上的CNR均值和SNR均值均高于同一部位的3D-FSSPGR序列,CNR 29.88±10.00 vs 12.08±3.08(t=23.09,P=0.000),SNR 34.70±11.16 vs 14.18±3.46(t=23.929,P=0.000);②正常膝关节软骨深层均值(29.12±8.07)ms,浅层均值(43.23±6.78)ms,浅层T1ρ值显著高于深层表现(t=-24.687,P=0.000)。结论 T1ρ序列可用于软骨临床评估,浅层软骨胶原纤维排列较深层更为致密。     

基于3D U-Net 实现人体耳软骨MRI图像的解剖结构分割

自体肋软骨雕刻法是目前治疗先天性小儿畸形的临床标准疗法,而耳软骨组织工程和3D生物打印是有前景的治疗方案。可是,这些治疗方案的核心—(复合物)支架构造缺乏基于医学图像的耳软骨自动分割方法。基于3D U-Net提出改进的网络模型,能够实现MRI图像的人体耳软骨解剖结构的自动分割。该网络模型结合残差结构和多尺度融合等设计,在减少网络参数量的同时实现12个耳软骨解剖结构的精确分割。首先,使用超短回波时间(UTE)序列采集40名志愿者单侧外耳的MRI图像;然后,对所采集的图像进行预处理、耳软骨和多解剖结构手动标注;接下来,划分数据集训练改进的3D U-Net模型,其中32例数据作为训练集、4例为验证集、4例为测试集;最后,使用三维全连接条件随机场对网络输出结果进行后处理。模型经过10折交叉验证后,耳软骨12个解剖结构的自动分割结果的平均Dice相似度系数(DSC)和平均95%豪斯多夫距离(HD95)分别为0.818和1.917,相比于使用基础的3D U-Net模型,DSC指标分别提高6.0%,HD95指标降低了3.186,其中耳软骨关键结构耳轮和对耳轮的DSC指标达到了0.907和0.901。实验结果表明,所提出的深度学习方法与专家手动标注两者之间的结果非常接近。在临床应用中,根据患者健侧UTE核磁图像,本研究提出的方法既可以为现有自体肋软骨雕刻法快速、自动生成三维个性化雕刻模板,也可以为组织工程或者3D生物打印技术构建耳软骨复合物支架提供高质量的可打印模型。     

短T2组织磁共振成像技术研究进展

常规磁共振有较好的软组织对比度,但对骨、关节、软骨、肌腱等短T2组织（约小于10 ms）的分辨能力欠佳。可通过 增强短T2组织的图像对比度（利用魔角效应和注射造影剂）、开发专用的短T2组织成像技术（可变回波时间成像、超短回波 时间成像和零回波时间成像）和抑制周围长T2组织来获得较高质量的短T2组织图像。近年来,定量磁共振成像技术因其 能精准地反映与病变相关的生化参数特征也被应用于短T2组织病变的临床诊断。本研究主要从增强短T2组织对比度、缩 短序列回波时间和长T2组织抑制等3个方面回顾了短T2组织磁共振成像的常规方法,并对短T2组织的定量磁共振成像技 术进行了系统的分析和展望。     

3.0 T磁共振T2WI IDEAL及DTI在腰椎间盘退行性变中应用

目的 探讨3.0 T磁共振T₂加权成像(T₂WI)、三点法非对称回波水脂分离(IDEAL)成像及扩散张量成像(DTI)在腰椎间盘退行性变评估中的应用价值。方法 选择100例腰椎间盘退行性变患者，其中男性51例，女性49例；年龄14～85岁，平均年龄49.4岁；病程1天～3年，平均病程(65.0±16.2)天；发生椎间盘突出部位L_1/2椎间盘2例，L_2/3椎间盘7例，L_3/4椎间盘23例，L_4/5椎间盘56例，L₅/S₁椎间盘48例。采用T₂WI IDEAL水相位图根据Pfirrmann分级标准对椎间盘进行分级，并测量各椎间盘T₂信号强度(T₂SI)。采用矢状位DTI图测量各椎间盘部分各向异性系数(FA)及表观扩散系数(ADC)。比较椎间盘不同Pfirrmann分级间FA、ADC值及T₂SI，并统计分析FA、ADC值及T     

正常志愿者肾脏血氧水平依赖MRI——1.5T与3.0T MRI对比

目的探讨正常志愿者肾脏血氧水平依赖(BOLD)MRI在3.0TMRI机与1.5TMRI机的区别。方法选择无肾脏疾病史的正常志愿者16例,其中男性6例,女性10例;年龄30~65岁,平均年龄54岁。禁食、水12 h,首先在3.0 T MRI机(GE Signa HDx 3.0 T MRI机)上行冠状位肾脏BOLD成像,扫描参数如下:TR为120 ms,采用8个TE(1.5、2.5、8.0、10.0、15.0、30.0、45.0、60.0 ms),卷折角30°,显示野32 cm。共采集3层图像,每层图像根据不同的TE值采集8幅图像。原始图像传至ADW 4.4工作站进行后处理。次日,同样条件,每位志愿者在1.5 T MRI机(GE Signa HDx 1.5 T MRI机)上进行BOLD扫描,条件同上。将2次所测得的双侧肾脏皮质和髓质的R2*平均值进行对比。结果双肾皮质3.0 T MRI与1.5 T MRI所测得的R2*值对比,差异有统计学意义(P<0.05);3.0 T MRI所测得的R2*值较1.5 T MRI测得的R2*值高7.53 Hz;双肾髓质3.0T MRI与1.5 T MRI所测得的R2*值对比,差异有统计学意义(P<0.05),且3.0 T MRI所测得的R2*值较1.5 T MRI测得的R2*值高15.89 Hz。结论肾脏BOLD MRI,在3.0 T MRI机所测得的R2*值高于在1.5 T MRI机上测得的R2*值,以髓质差别更加明显,说明肾脏BOLD 3.0 T MRI对肾髓质内氧含量变化更加敏感。     

低场三维超短回波时间磁共振成像的优化

传统磁共振序列回波时间至少为1ms,能够形成良好的软组织对比度。然而一些短T2组织由于衰减太快,在传统磁共振图像中呈现暗信号。近年来,超短回波时间序列因其对短T2组织的成像能力成为了磁共振领域的研究热点,绝大多数研究是在高场下进行的,但在发展中国家仍有大量的低场磁共振系统在使用。本文在0.35T永磁磁共振系统中实现了三维超短回波时间序列,研究采样与读出梯度间的延时、参与计算R2*图像的回波时间和欠采样率对结果的影响。通过改变成像和重建参数发现,采样与读出梯度间的微小延时会对原始图像产生较大的影响;用不同时刻的回波图像计算出的R2*图像也有较大的差别;而过度的欠采样会直接影响对短T2组织的显示。上述结果显示了在低场下进行三维超短回波时间成像时选择合适成像参数的重要性,通过选择适当的参数,短T2组织可以在低场下得到成像。     

基于定量动态负荷下膝关节骨性关节炎软骨MRIT2时间表现研究

目的通过比较膝关节骨性关节炎（OA）病人定量动态负荷前后膝关节软骨T2时间变化情况,分析MRIT2mapping序列反映软骨基质生物力学变化的灵敏度．并验证高磁场条件下人体关节负荷装置的有效性。方法10例膝关节OA病人,其中男性3例．女性7例：年龄4l～66岁．平均年龄57-3岁。依托人体下肢关节力学负荷装置,对其施加膝关节动态负荷。负荷前后行膝关节MRIT2maDping成像,将膝关节轴向负荷区软骨分为4个部位：胫骨平台内、外侧软骨区及股骨内、外侧髁软骨区．分别测量各部位软骨负荷前后的T,时间。对负荷前膝关节内、外侧软骨分级评估进行卡方检验,对同一软骨区动态负荷前后的T2时间进行配对t检验。结果负荷前膝关节内外侧软骨分级差异无统计学意义（P〉0．05）。OA病人负荷前后T2值,胫骨平台内侧软骨区分别为（39．59±4．17）ms、（40．14±4．49）ms（f=0．426,P=0．680）;胫骨平台外侧软骨区（38．85±6．72）ms、（41．25±6．54）ms（t=1．704,P=0．123）：股骨内侧髁软骨区（36．44±5．72）ms、（40．63±4．90）ms（t=1．783,P=0．108）;股骨外侧髁软骨区（39．30±5．78）ms、（46．14±5．03）ms（t=2．826,P=0．020）。结论OA病人负荷后膝关节局部区域软骨区T2时间延长．自行设计的动态加压装置适合在高磁场条件下完成加压及MRI检查,有一定推广意义。     

膝关节软骨负荷运动前后磁共振T_2时间与容积变化研究

目的通过比较分析负荷运动前后膝关节软骨磁共振T2时间和软骨容积变化,探讨利用T2时间和容积变化反映负荷作用下软骨形态变化的可行性。方法选择20例健康志愿者,其中男性16例,女性4例;年龄为20.1~30.4岁,平均年龄25.7岁。在同等运动负荷前后进行软骨T2mapping序列成像,测量股骨内外侧髁、胫骨平台和髌软骨T2时间;以三维脂肪抑制快速扰相梯度回波(3D-FS-SPGR)序列扫描并采用最大信号强度投影法(MIP)重建后测量髌软骨及股骨髁软骨容积。比较负荷前后软骨T2时间变化、软骨容积差异,并分析软骨容积与T2时间变化间的相关性。结果运动前与运动后髌软骨T2时间最长,胫骨外侧平台最短;运动后不同部位软骨T2时间均降低(P=0.000),股骨内侧髁软骨下降幅度最大(t=-27.96,P=0.000);运动后膝关节软骨容积减小(P=0.000),股骨髁软骨容积变化程度(t=-86.71,P=0.000)大于髌软骨(t=-9.42,P=0.000);软骨容积与T2时间变化间无线性相关性(P0.05)。结论运动后膝关节软骨各部位T2时间和局部软骨容积均减少,但软骨容积与T2时间变化间无相关性;软骨T2mapping和软骨容积变化磁共振成像技术对评价负荷作用下软骨形态变化有一定的意义。     

Effects of inversion time on inversion recovery prepared ultrashort echo time (IR‐UTE) imaging of bound and pore water in cortical bone

Water is present in cortical bone in different binding states. In this study we aimed to investigate the effects of inversion time (TI) on the signal from bound and pore water in cortical bone using an adiabatic inversion recovery prepared ultrashort echo time (IR‐UTE) sequence on a clinical 3 T scanner. In total ten bovine midshaft samples and four human tibial midshaft samples were harvested for this study. Each cortical sample was imaged with the UTE and IR‐UTE sequences with a TR of 300 ms and a series of TI values ranging from 10 to 240 ms. Five healthy volunteers were also imaged with the same sequence. Single‐ and bi‐component models were utilized to calculate the T₂* and relative fractions of short and long T₂* components. Bi‐component behavior of the signal from cortical bone was seen with the IR‐UTE sequence, except with a TI of around 80 ms, where the short T₂* component alone were seen and a mono‐exponential decay pattern was observed. In vivo imaging with the IR‐UTE sequence provided high contrast‐to‐noise images with direct visualization of bound water and reduced signal from long T₂ muscle and fat. Our preliminary results demonstrate that selective nulling of the pore water component can be achieved with the IR‐UTE sequence with an appropriate TI, allowing selective imaging of the bound water component in cortical bone in vivo using clinical MR scanners. Copyright © 2014 John Wiley & Sons, Ltd.     

Can ultrashort‐TE (UTE) MRI sequences on a 3‐T clinical scanner detect signal directly from collagen protons: freeze–dry and D2O exchange studies of cortical bone and Achilles tendon specimens

Ultrashort‐TE (UTE) sequences can obtain signal directly from short‐T ₂ , collagen‐rich tissues. It is generally accepted that bound and free water can be detected with UTE techniques, but the ability to detect protons directly on the collagen molecule remains controversial. In this study, we investigated the potential of UTE sequences on a 3‐T clinical scanner to detect collagen protons via freeze–drying and D ₂ O–H ₂ O exchange studies. Experiments were performed on bovine cortical bone and human Achilles tendon specimens, which were either subject to freeze–drying for over 66 h or D ₂ O–H ₂ O exchange for 6 days. Specimens were imaged using two‐ and three‐dimensional UTE with Cones trajectory techniques with a minimum TE of 8 μs at 3 T. UTE images before treatment showed high signal from all specimens with bi‐component T ₂ * behavior. Bovine cortical bone showed a shorter T ₂ * component of 0.36 ms and a longer T ₂ * component of 2.30 ms with fractions of 78.2% and 21.8% by volume, respectively. Achilles tendon showed a shorter T ₂ * component of 1.22 ms and a longer T ₂ * component of 15.1 ms with fractions of 81.1% and 18.9% by volume, respectively. Imaging after freeze–drying or D ₂ O–H ₂ O exchange resulted in either the absence or near‐absence of signal. These results indicate that bound and free water are the sole sources of UTE signal in bovine cortical bone and human Achilles tendon samples on a clinical 3‐T scanner. Protons on the native collagen molecule are not directly visible when imaged using UTE sequences. Copyright © 2016 John Wiley & Sons, Ltd.     

Fast volumetric imaging of bound and pore water in cortical bone using three‐dimensional ultrashort‐TE (UTE) and inversion recovery UTE sequences

We report the three‐dimensional ultrashort‐TE (3D UTE) and adiabatic inversion recovery UTE (IR‐UTE) sequences employing a radial trajectory with conical view ordering for bi‐component T₂* analysis of bound water (T₂*^BW) and pore water (T₂*^PW) in cortical bone. An interleaved dual‐echo 3D UTE acquisition scheme was developed for fast bi‐component analysis of bound and pore water in cortical bone. A 3D IR‐UTE acquisition scheme employing multiple spokes per IR was developed for bound water imaging. Two‐dimensional UTE (2D UTE) and IR‐UTE sequences were employed for comparison. The sequences were applied to bovine bone samples (n = 6) and volunteers (n = 6) using a 3‐T scanner. Bi‐component fitting of 3D UTE images of bovine samples showed a mean T₂*^BW of 0.26 ± 0.04 ms and T₂*^PW of 4.16 ± 0.35 ms, with fractions of 21.5 ± 3.6% and 78.5 ± 3.6%, respectively. The 3D IR‐UTE signal showed a single‐component decay with a mean T₂*^BW of 0.29 ± 0.05 ms, suggesting selective imaging of bound water. Similar results were achieved with the 2D UTE and IR‐UTE sequences. Bi‐component fitting of 3D UTE images of the tibial midshafts of healthy volunteers showed a mean T₂*^BW of 0.32 ± 0.08 ms and T₂*^PW of 5.78 ± 1.24 ms, with fractions of 34.2 ± 7.4% and 65.8 ± 7.4%, respectively. Single‐component fitting of 3D IR‐UTE images showed a mean T₂*^BW of 0.35 ± 0.09 ms. The 3D UTE and 3D IR‐UTE techniques allow fast volumetric mapping of bound and pore water in cortical bone. Copyright © 2016 John Wiley & Sons, Ltd.     

Sodium relaxation times in the knee joint in vivo at 7T

The sodium concentration correlates directly with the concentration of proteoglycans (PG) in cartilage, the loss of which is an early signature of osteoarthritis (OA). As a result, quantitative sodium MRI is a promising technique for assessing the degradation of articular cartilage in patients with OA. Sodium relaxation times can also provide information on the degradation of cartilage: it has already been shown on bovine cartilage that T(1) and T2long are longer and T2short shorter when the PG concentration decreases. In this study, sodium T(1), T2*short and T2*long relaxation maps were measured in vivo at 7 T on 8 healthy volunteers and in 4 different regions of the cartilage in the knee joint. The patellar, femoro-tibial medial, lateral, and femoral condyle cartilage have an average T(1)~20 ms, but different T2*short (from 0.5 ms to 1.4 ms) and T2*long (from 11.4 ms to 14.8 ms). Statistically significant differences in T(1), T2*short and T2*long were observed between the different regions in cartilage (p < 10(- 5)). Statistical differences in T(1) were also observed between male and female data (p < 10(- 5)). These relaxation times measurements can further be applied as correction factors for sodium concentration maps in vivo and can also be useful as complementary information to quantitative sodium MRI in the quest for detecting early OA. These measurements were done on low resolution sodium images in order to acquire sufficient quality data for fitting (5 images for T(1) and 9 images for T2*) while keeping the total time of acquisition of the data reasonable for the volunteer's comfort (1 h 15 min).     

Correlations of cortical bone microstructural and mechanical properties with water proton fractions obtained from ultrashort echo time (UTE) MRI tricomponent T2* model

Mechanical and microstructural evaluations of cortical bone using ultrashort echo time magnetic resonance imaging (UTE‐MRI) have been performed increasingly in recent years. UTE‐MRI acquires considerable signal from cortical bone and enables quantitative bone evaluations. Fitting bone apparent transverse magnetization (T2*) decay using a bicomponent model has been regularly performed to estimate bound water (BW) and pore water (PW) in the quantification of bone matrix and porosity, respectively. Human cortical bone possesses a considerable amount of fat, which appears as MRI T2* signal oscillation and can subsequently lead to BW overestimation when using a bicomponent model. Tricomponent T2* fitting model has been developed to improve BW and PW estimations by accounting for fat contribution in the MRI signal. This study aimed to investigate the correlations of microstructural and mechanical properties of human cortical bone with water pool fractions obtained from a tricomponent T2* model. 135 cortical bone strips (~4 × 2 × 40 mm³) from tibial and femoral midshafts of 37 donors (61 ± 24 years old) were scanned using ten sets of dual‐echo 3D‐UTE‐Cones sequences (TE = 0.032–24.0 ms) on a 3 T MRI scanner for T2* fitting analyses. Average bone porosity and pore size were measured using microcomputed tomography (μCT) at 9 μm voxel size. Bone mechanical properties were measured using 4‐point bending tests. Using a tricomponent model, bound water fraction (Frac_BW) showed significant strong (R = 0.70, P < 0.01) and moderate (R = 0.58–0.62, P < 0.01) correlations with porosity and mechanical properties, respectively. Correlations of bone microstructural and mechanical properties with water pool fractions were higher for tricomponent model results compared with the bicomponent model. The tricomponent T2* fitting model is suggested as a useful technique for cortical bone evaluation where the MRI contribution of bone fat is accounted for.     

Inversion recovery ultrashort echo time imaging of ultrashort T2 tissue components in ovine brain at 3 T: a sequential D2O exchange study

Inversion recovery ultrashort echo time (IR‐UTE) imaging holds the potential to directly characterize MR signals from ultrashort T₂ tissue components (STCs), such as collagen in cartilage and myelin in brain. The application of IR‐UTE for myelin imaging has been challenging because of the high water content in brain and the possibility that the ultrashort T₂* signals are contaminated by water protons, including those associated with myelin sheaths. This study investigated such a possibility in an ovine brain D₂O exchange model and explored the potential of IR‐UTE imaging for the quantification of ultrashort T₂* signals in both white and gray matter at 3 T. Six specimens were examined before and after sequential immersion in 99.9% D₂O. Long T₂ MR signals were measured using a clinical proton density‐weighted fast spin echo (PD‐FSE) sequence. IR‐UTE images were first acquired with different inversion times to determine the optimal inversion time to null the long T₂ signals (TI_null). Then, at this TI_null, images with echo times (TEs) of 0.01–4 ms were acquired to measure the T₂* values of STCs. The PD‐FSE signal dropped to near zero after 24 h of immersion in D₂O. A wide range of TI_null values were used at different time points (240–330 ms for white matter and 320–350 ms for gray matter at TR = 1000 ms) because the T₁ values of the long T₂ tissue components changed significantly. The T₂* values of STCs were 200–300 μs in both white and gray matter (comparable with the values obtained from myelin powder and its mixture with D₂O or H₂O), and showed minimal changes after sequential immersion. The ultrashort T₂* signals seen on IR‐UTE images are unlikely to be from water protons as they are exchangeable with deuterons in D₂O. The source is more likely to be myelin itself in white matter, and might also be associated with other membranous structures in gray matter.     

Quantitative three‐dimensional ultrashort echo time cones imaging of the knee joint with motion correction

Knee degeneration involves all the major tissues in the joint. However, conventional MRI sequences can only detect signals from long T2 tissues such as the superficial cartilage, with little signal from the deep cartilage, menisci, ligaments, tendons and bone. It is highly desirable to develop new sequences that can detect signal from all major tissues in the knee. We aimed to develop a comprehensive quantitative three‐dimensional ultrashort echo time (3D UTE) cones imaging protocol for a truly “whole joint” evaluation of knee degeneration. The protocol included 3D UTE cones actual flip angle imaging (3D UTE‐Cones‐AFI) for T₁ mapping, multiecho UTE‐Cones with fat suppression for T₂* mapping, UTE‐Cones with adiabatic T_1ρ (AdiabT_1ρ) preparation for AdiabT_1ρ mapping, and UTE‐Cones magnetization transfer (UTE‐Cones‐MT) for MT ratio (MTR) and modeling of macromolecular proton fraction (f). An elastix registration technique was used to compensate for motion during scans. Quantitative data analyses were performed on the registered data. Three knee specimens and 15 volunteers were evaluated at 3 T. The elastix motion correction algorithm worked well in correcting motion artifacts associated with relatively long scan times. Much improved curve fitting was achieved for all UTE‐Cones biomarkers with greatly reduced root mean square errors. The averaged T₁, T₂*, AdiabT_1ρ, MTR and f for knee joint tissues of 15 healthy volunteers were reported. The 3D UTE‐Cones quantitative imaging techniques (ie, T₁, T₂*, AdiabT_1ρ, MTR and MT modeling) together with elastix motion correction provide robust volumetric measurement of relaxation times, MTR and f of both short and long T₂ tissues in the knee joint.     

Right-sided microtia and conductive hearing loss with variable expressivity in three generations

Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right-sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, whereas the daughter had a normal outer ear except for a narrow meatus and auricular appendages. The pedigree suggests autosomal dominant inheritance with variable expressivity.