Dolci Claudia, Rigamonti Antonello E, Cappella Annalisa, Gibelli Daniele M, Grugni Graziano, Caroli Diana, Sforza Chiarella, Sartorio Alessandro
Laboratory of Functional Anatomy of the Stomatognathic System (LAFAS), Department of Biomedical Sciences for Health, Università degli Studi di Milano, 20133 Milan, Italy.
Department of Clinical Sciences and Community Health, University of Milan, 20129 Milan, Italy.
Biology (Basel). 2022 Jul 30;11(8):1148. doi: 10.3390/biology11081148.
Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder associated to a complex neurodevelopmental phenotype and a distinctive facial appearance. The study investigated the relationships between the quantitative facial dysmorphism in PWS and clinical and biochemical markers of the disease and its treatment.
Facial images of 15 Caucasian adult individuals with PWS (8 males, 42 ± 5 years; 7 females, 37 ± 8 years; BMI 38.87 ± 8.92 kg/m) were acquired through stereophotogrammetry. From the 3D coordinates of 38 landmarks, linear distances and angles were calculated; they were expressed as z-score values by referring to 403 healthy subjects matched for age and sex and compared by Student's -test with Bonferroni correction for multiple testing. Patients underwent auxological and biochemical assessment of endocrine/metabolic dysfunction and nocturnal respiratory function. An exploratory correlation analysis was performed to investigate their associations with the facial phenotype; uncorrected -values were used.
Individuals with PWS showed decreased bifrontal diameter, facial depths, palpebral fissures, mandibular ramus length, lower vermillion height, and modified relative position of exocanthia and nasion. Since these characteristics did not show any associations with clinical and biochemical markers of PWS, they could constitute robust distinctive facial features and contribute to the diagnosis of the disorder. Individuals with PWS showed also a larger mandibular width with smaller gonial angles, thinner upper vermillion, greater inclination of the orbit relative to the Frankfurt plane, and a smaller angle of the auricles versus the facial midplane. Relationships between these facial anthropometric features and body composition, glucidic metabolism indexes, nocturnal hypoxemia episodes, or duration of GH treatment were found, suggesting their potentially useful role in the clinical monitoring and management of the disease. However, they need to be confirmed by subsequent dedicated studies.
普拉德-威利综合征（PWS）是一种罕见的基因组印记疾病，与复杂的神经发育表型和独特的面部外观有关。本研究调查了PWS患者面部定量畸形与该疾病的临床和生化标志物及其治疗之间的关系。
通过立体摄影测量法获取了15名患有PWS的白种成年人（8名男性，42±5岁；7名女性，37±8岁；体重指数38.87±8.92kg/m）的面部图像。根据38个标志点的三维坐标计算线性距离和角度；通过参考403名年龄和性别匹配的健康受试者将其表示为z分数值，并通过Student's t检验进行比较，采用Bonferroni校正进行多重检验。患者接受了内分泌/代谢功能障碍和夜间呼吸功能的体格和生化评估。进行探索性相关分析以研究它们与面部表型的关联；使用未校正的p值。
患有PWS的个体表现出双额直径、面部深度、睑裂、下颌升支长度、下唇红高度降低，以及外眦和鼻根的相对位置改变。由于这些特征与PWS的临床和生化标志物没有任何关联，它们可能构成强有力的独特面部特征，并有助于该疾病的诊断。患有PWS的个体还表现出下颌宽度较大、下颌角较小、上唇红较薄、眼眶相对于法兰克福平面的倾斜度较大，以及耳廓与面部中平面的角度较小。发现这些面部人体测量特征与身体成分、糖代谢指标、夜间低氧血症发作或生长激素治疗持续时间之间存在关系，表明它们在该疾病的临床监测和管理中可能具有潜在的有用作用。然而，它们需要后续专门研究予以证实。
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