Tarsoconjunctival-Skin Flap as Another Option in Correcting Ectropion for Oro-Ocular Cleft Reconstruction: Report of 2 Cases

Facial clefts are rare facial anomalies. Among them, oro-ocular cleft remains a challenging malformation due to ectropion of the inferior palpebra which can constitute an emergency when the patient's globe is exposed leading to exposure keratitis and blindness. Here we report surgical procedures to correct lower eyelid ectropion using tarsoconjunctival-skin flap performed on 2 cases. In conclusion, tarsoconjunctival-skin flap can be provided to effectively correct lower eyelid ectropion and is a better option when nose correction is not involved simultaneously.

Results of criterional and descriptive assessing dysmorphological disorders associated with prenatal exposure to ethanol in children 7-10 years of age

Diagnosis of disorders that determine the clinical manifestations of fetal alcohol syndrome (FAS) can cause certain difficulties: children with intrauterine alcohol exposure have a fairly wide range of physical, cognitive and behavioral features. The severity of disorders varies, which is determined mainly by the period when mother consumed alcohol (1st, 2nd or 3rd trimester of pregnancy), as well as frequency and amount of alcohol consumed. This article presents results of the second stage of the study among school students 7-10 year of age to identify and assess dysmorphological disorders that have arisen due to prenatal exposure to ethanol. During the first stage of the study, 77 students with delayed physical development (height and weight at the level of the 10th centile and less) were identified with anamnestic data about their mothers’ drinking alcohol during pregnancy. All children were included in the second stage of the study for detailed dysmorphological assessment. Diagnostics was carried out in two directions: criterial, including determining presence or absence of disorders, and if any, determining the severity of facial phenotype of FAS (short palpebral fissure lengths, smooth philtrum, thin upper lip); and descriptive, including determining presence or absence of disorders, and if any, determining severity of other dysmorphological disorders associated with FAS (face shape, features of the eyes, shape of the ears, features of the nostrils and lips, features of the structure of the hands). According to the results of the criteria-based diagnostics, 11 (14.3%) out of 77 children had typical facial anomalies or facial phenotype typical for FAS. 4 children had full correspondence of facial anomalies to severe, and 7 children to moderate. According to results of syndromic diagnosis, all children had from 1 to 6 signs of dysmorphological manifestations of FAS, represented by: upper palmar fold in the form of a «hockey stick» in 42.9%; altered ear configurations in the form of a «railway track» in 42.9%; short palpebral fissure lengths in 41.6%; smooth philtrum in 41.6%; thin upper lip in 41.6%; strabismus in 37.7%; clinodactyly of the 5th finger in 37.7%; small midface in 23.4%.

EVALUATION OF THE QUALITY OF THE RESULTS OF ORTHODONTIC TREATMENT IN THE CLINICS OF ST. PETERSBURG

To date, various methods of qualitative and quantitative assessment of dental-facial anomalies have been described in the medical literature. They describe the causes of dental anomalies, determine the localization of disorders, consider the functional state of the dental system, as well as quantify the degree of violations of facial aesthetics, occlusion, morphology and function in various dental-facial anomalies. To assess the effectiveness of orthodontic treatment, it is necessary to conduct a quality assessment in patients with dentofacial anomalies who have completed orthodontic treatment. The essence of the proposed method is that on the basis of tables developed and structured according to several blocks, an assessment of the quality of orthodontic treatment is proposed, including an assessment of the aesthetics of the face and smile, articulation and occlusal ratios, malocclusion anomalies in the sagittal, vertical and transversal directions, the state of periodontal tissues and hard tissues of the teeth, as well as the state of the temporomandibular joint in patients who have completed orthodontic treatment. The assessment of the quality of orthodontic treatment consists of three blocks: assessment of the quality of the results of orthodontic treatment, assessment of the process of orthodontic treatment, assessment of the maintenance of medical records. According to the results of filling in which, a conclusion is made about the quality of the orthodontic treatment. The overall assessment of the quality of orthodontic treatment is obtained by summing up the results of the three assessments received, and the assessment of the quality of clinical work is crucial. The method developed by us allows us to make an expert assessment of the process of orthodontic treatment, the quality of its results and the maintenance of medical records in patients who have completed orthodontic treatment. The article presents the results of the assessment of the quality of orthodontic treatment in the clinics of St. Petersburg.

Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament

The multiple factors that determine outcomes for individuals with visible developmental errors and/or atypical development of the reproductive system are not fully understood. This case report of an individual with Bosma arhinia microphthalmia syndrome causing severe facial anomalies and hypogonadotropic hypogonadism is used to highlight factors that impacted his adjustment from childhood through adulthood. Key factors include his temperament, intact cognitive ability, and pragmatic approach for controlling his physical and social environment. His successful adjustment even in the face of significant early life challenges demonstrates that positive outcomes are attainable for individuals with significant developmental errors. His story and experiences with the health-care system offer insight into some factors that may be pertinent to resilience and lifelong adjustment for patients with similar conditions and the importance of continually seeking the patient’s perspective to tailor treatment across the lifespan.

FROM ‘LION FACE’ TO ‘BUTTERFLY ERUPTION’: ZOOMORPHIC METAPHORS AS MESSENGERS OF FACIAL ANOMALIES

Medicine contributes to every person’s health in terms of diagnosis, treatment or prevention of a disease. Hence, constructing the clinical picture and the diagnosis of a health condition and conveying complex technical information in a comprehensible language is of utmost importance. In this regard, medical professionals rely not only on Greco-Latin terms of Classical times, but also resort to metaphors to illuminate many facets of medical observations and clinical findings. These metaphors stem either from anthropomorphic or zoomorphic areas and act as primary interface between scientific thought and understanding. From this perspective, the present article examines the value of metaphor in medicine and through the employment of descriptive method, explores some of the most widespread zoomorphic metaphors, which denominate certain facial anomalies.

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

Factors affecting facial development and formation of cleft lip and palate: a literature review

The craniofacial region forms in a complicated developmental process regulated by multiple genes and growth factors. Disruption and dysregulation during facial development can lead to multiple congenital facial anomalies including cleft lip and palate. This literature review collects and analyses the existing information about the interaction of multiple growth factors and genes within the developing facial region and their association with facial pathology. The factors analysed in this review are DLX4, FOXE1, HOXB3, MSX2, PAX7, PAX9, RYK, SHH, SOX3, WNT3A, WNT9B and BARX1.

A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay

Представлен случай малой сверхчисленной маркерной хромосомы (мСМХ) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениями. Структура маркерной хромосомы, установленная при FISH-анализе, была определена как r(20)(p12q12). Обсуждаются проблемы мСМХ, содержащих только околоцентромерные области, и вопросы корреляции генотип-фенотип. We report on a case of small supernumerary marker chromosome (sSMC) in a 3-year boy with facial anomalies and speech delay. The constitution of marker chromosome was designated by mFISH analysis as r(20)(p12q12). The problems of diagnostics of sSMC, containing the pericentromeric regions only, and genotype-phenotype correlations are discussied.