Distinctive facial features in <scp>Andersen–Tawil</scp> syndrome: A three‐dimensional stereophotogrammetric analysis

Dolci, Claudia; Sansone, Valeria; Gibelli, Daniele; Cappella, Annalisa; Sforza, Chiarella

doi:10.1002/ajmg.a.62040

Cited by 7 publications

(7 citation statements)

References 36 publications

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“…T2DM is closely related to heredity factors, obesity, and other mechanisms. Facial features are formed under the joint action of genetic information, bone, muscle, fat, and other factors, which is consistent with the pathogenesis of T2DM ( 32 - 35 ). At the same time, because the influence of facial features is more physical factors.…”

Section: Discussionsupporting

confidence: 56%

Objective study of the facial parameters of observations in patients with type 2 diabetes mellitus by machine learning

Cheng¹,

Ma²,

Chen³

et al. 2022

Ann Transl Med

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Background: A predictive model of facial feature data was established by machine learning to screen the objective parameters of risk factors of facial morphological features of type 2 diabetes mellitus (T2DM) following the theory of traditional Chinese medicine (TCM). In TCM, a facial inspection is an important way to diagnose patients. Doctors can judge the health status of their patients by observing their facial features. However, the lack of description of the objective parameters and quantitative indicators hinders the development of TCM testing research.Methods: In this study, the following diagnostic criteria for diabetes developed by the World Health Organization (WHO) in 1999 were used to determine the inclusion and exclusion criteria for T2DM and non-T2DM. T2DM patients and control participants were enrolled in the study, and their facial images were collected. In this study, two facial inspection risk-factor models were constructed, including the "lambda.min" and "lambda.1se" model.Results: A total of 81 key points in the facial images were screened, and 18 facial morphological parameters were measured. The least absolute shrinkage and selection operator (LASSO) regression model was used to construct T2DM facial inspection risk-factor models. The areas under the curve (AUCs) of the "lambda.min" model and the "lambda.1se" model were 0.799 and 0.776, respectively. The predictive efficiency of the two T2DM risk models selected by the LASSO regression model was relatively high. Among the eight parameters, the width of the jaw was the most important of the defined facial features. According to the receiver operating characteristic (ROC) curve analysis of the two prediction models constructed, the two models had good predictive efficiency for T2DM. The AUCs of the two models were 0.695 and 0.682, respectively. And the reproducibility is good. The prediction model was available, which showed that the objective parameters of the facial features recognized by machine learning have a certain value in the automatic prediction of T2DM. Conclusions:The influence of facial features is physical factor. Thus, the objective parameters of facial features should be specific to differential diagnosis of T2DM.

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Section: Discussionsupporting

confidence: 56%

Objective study of the facial parameters of observations in patients with type 2 diabetes mellitus by machine learning

Cheng¹,

Ma²,

Chen³

et al. 2022

Ann Transl Med

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“…Before the acquisition of the 3D facial image, an expert morphologist identified 50 facial soft-tissue anatomical landmarks by visual inspection or palpation of the face, marking the last ones on the skin with a common eyeliner. Landmarks were chosen according to international criteria [ 27 ]; a specific protocol was devised to describe the face as a whole and its different portions (facial thirds, orbital region, nose, ears, lips) and to investigate dysmorphisms associated to syndromes and genetic disorders [ 28 , 29 ]. The following landmarks were used in the present study:…”

Section: Methodsmentioning

confidence: 99%

Robustness of Distinctive Facial Features in Prader-Willi Syndrome: A Stereophotogrammetric Analysis and Association with Clinical and Biochemical Markers in Adult Individuals

Dolci

Rigamonti²,

Cappella³

et al. 2022

Biology

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Background: 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. Methods: 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/m2) 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 t-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 p-values were used. Results and Conclusions: 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.

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“…Dysmorphic features include broad forehead, short palpebral fissure, broad nasal bridge, high arched palate, hypoplasia of maxilla, mandibular and dental abnormalities [12] and skeletal abnormalities (small stature, clinodactyly and syndactyly). Cognitive disturbances have also been reported, particularly deficits in executive function and abstract reasoning [13].…”

Section: Introductionmentioning

confidence: 99%

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

Villar-Quiles

Sternberg

Tredez

et al. 2022

Euro J of Neurology

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Background and purpose Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized. Methods A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted. Results Thirty‐five patients from 27 unrelated families carrying 17 different missense KCNJ2 mutations (four novel mutations) and a heterozygous KCNJ2 duplication are reported. The typical triad was observed in 42.9% of patients. Cardiac abnormalities were observed in 65.7%: 56.5% asymptomatic and 39.1% requiring antiarrhythmic drugs. 71.4% of patients exhibited dysmorphic features. Muscle symptoms were reported in 85.7%, amongst whom 13.3% had no cardiopathy and 33.3% no dysmorphic features. Periodic paralysis was present in 80% and was significantly more frequent in men. Common triggers were exercise, immobility and carbohydrate‐rich diet. Ictal serum potassium concentrations were low in 53.6%. Of the 35 patients, 45.7% had permanent weakness affecting proximal muscles, which was mild and stable or slowly progressive over several decades. Four patients presented with exercise‐induced pain and myalgia attacks. Diagnostic delay was 14.4 ± 9.5 years. ENMG long‐exercise test performed in 25 patients (71.4%) showed in all a decremental response up to 40%. Muscle biopsy performed in 12 patients revealed tubular aggregates in six patients (associated in two of them with vacuolar lesions), dystrophic features in one patient and non‐specific myopathic features in one patient; it was normal in four patients. Discussion Recognition of atypical features (exercise‐induced pain or myalgia and permanent weakness) along with any of the elements of the triad should arouse suspicion. The ENMG long‐exercise test has a high diagnostic yield and should be performed. Early diagnosis is of utmost importance to improve disease prognosis.

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Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

Cited by 7 publications

References 36 publications

Objective study of the facial parameters of observations in patients with type 2 diabetes mellitus by machine learning

Objective study of the facial parameters of observations in patients with type 2 diabetes mellitus by machine learning

Robustness of Distinctive Facial Features in Prader-Willi Syndrome: A Stereophotogrammetric Analysis and Association with Clinical and Biochemical Markers in Adult Individuals

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

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