Search Results (3)

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. Full article

Here, we explore the effects of prenatal alcohol exposure (PAE) in adolescence. We investigated associations between meconium ethyl glucoronide (EtG) and facial malformation. For 129 children (66/63 male/female; M = 13.3, SD = 0.32, 12–14 years), PAE was implemented by newborn meconium EtG and maternal self-reports during the third trimester. Cognitive development was operationalized by standardized scores (WISC V). The EtG cut-off values were set at ≥10 ng/g (n = 32, 24.8% EtG10+) and ≥112 ng/g (n = 20, 15.5% EtG112+). The craniofacial shape was measured using FAS Facial Photographic Analysis Software. EtG10+− and EtG112+-affected children exhibited a shorter palpebral fissure length (p = 0.031/p = 0.055). Lip circularity was smaller in EtG112+-affected children (p = 0.026). Maternal self-reports were not associated (p > 0.164). Lip circularity correlated with fluid reasoning (EtG10+ p = 0.031; EtG112+ p = 0.298) and working memory (EtG10+ p = 0.084; EtG112+ p = 0.144). The present study demonstrates visible effects of the facial phenotype in exposed adolescents. Facial malformation was associated with a child’s cognitive performance in the alcohol-exposed group. The EtG biomarker was a better predictor than maternal self-reports. Full article

Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder with severe negative lifetime consequences for the affected person. Numerous diagnostic methods for facial assessment in FAS exist, but most of them are based on subjective evaluations. Our aim was therefore to find objective methods for the verification of FAS(D). Methods: 58 children (28 FAS; 30 controls) were examined prospectively. 3D facial scans were performed for each child and facial parameters at the mouth, nose and eye regions were measured and compared between the groups. Results: Significant differences could be found for the distance between right and left sulcus nasi at the transition point to the philtrum (p < 0.001), for the inner canthal distance (p = 0.001) as well as for the right and left palpebral fissure length (p < 0.001). No significant difference between the FAS and control children could be found for the measurements of mouth breadth (p = 0.267) and breadth between the left and right alares nasi (p = 0.260). Conclusions: Measurements of mouth breadth and nose breadth for the alares nasi are not suitable for FAS diagnosis. In contrast, digital contactless measurements of the distance between the right and left sulcus nasi at the transition point to the philtrum, as well as the inner canthal distance and palpebral fissure length of the left and right eyes, showed significant differences when comparing children with FAS to healthy controls. These measurements could thus be additional objective means for the verification of FAS. Full article