Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS), Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.
NEuroMuscularOmnicenter, NEMO Clinical Center, Neurorehabilitation Unit, Università degli Studi di Milano, Milan, Italy.
Am J Med Genet A. 2021 Mar;185(3):781-789. doi: 10.1002/ajmg.a.62040. Epub 2020 Dec 24.
Andersen-Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not show variants in KCNJ2 gene, and diagnosis is established by clinical findings. We aimed to characterize the face in ATS through a quantitative approach, as facial anomalies may be unnoticed on visual inspection. Facial images of 12 subjects with genetically confirmed ATS (six males, six females, age 5-67 years) were acquired through stereophotogrammetry. Using 38 soft-tissue landmarks, linear distances, angles, and ratios were calculated and expressed as z-score values, with reference to 477 healthy subjects matched for sex and age. All patients showed decreased lower facial height with shortening of philtrum (mean z-score ± SD: -1.5 ± 0.9), smaller mid and lower facial depths (-1.9 ± 0.7; -2.3 ± 0.9), short palpebral fissures (right -1.2 ± 0.4; left -1.6 ± 0.6), smaller mandibular ramus length (-2.1 ± 0.4), and increased nasal width/length ratio (1.4 ± 0.5) with smaller nostril axis length (right -1.8 ± 0.8, left -1.6 ± 0.7). Hypertelorism and low-set ears were detected in two-thirds of patients. The study quantified facial dysmorphysm in ATS, extending information about known features, and detecting unrecorded philtrum and nostril characteristics, which may be distinctive traits of the disorder.
Andersen-Tawil 综合征（ATS）是一种罕见的钾通道病，可导致周期性瘫痪、心律失常和发育异常。对面部进行详细分析有助于 ATS 的诊断，因为大约 30%的患者 KCNJ2 基因没有变异，而是通过临床发现来诊断。我们旨在通过定量方法来描述 ATS 的面部特征，因为通过肉眼观察可能会忽略面部异常。通过立体摄影术获得 12 名经基因证实的 ATS 患者（6 名男性，6 名女性，年龄 5-67 岁）的面部图像。使用 38 个软组织标志点，计算线性距离、角度和比值，并表示为 z 分数值，参照 477 名性别和年龄匹配的健康受试者。所有患者均表现出下颜面高度降低，人中缩短（平均 z 分数±标准差：-1.5±0.9），中下面部深度减小（-1.9±0.7；-2.3±0.9），睑裂较小（右眼-1.2±0.4；左眼-1.6±0.6），下颌支长度较短（-2.1±0.4），鼻宽/长比值增加（1.4±0.5），鼻孔轴长较小（右眼-1.8±0.8，左眼-1.6±0.7）。三分之二的患者存在内斜视和低位耳。该研究对面部 ATS 的畸形进行了量化，扩展了已知特征的信息，并检测到未记录的人中特征和鼻孔特征，这些特征可能是该疾病的特有特征。
