CLINICAL IMPLICATIONS OF ANTHROPOMETRIC STUDY OF FACIAL INDEX IN FIRST YEAR MEDICAL STUDENTS OF SKIMS MEDICAL COLLEGE

Introduction:The structure of face is dependent on various attributes such as gender, ethnic background, race,climate , socioeconomic status and genetics. The facial index is the ratio of facial height (distance between Nasion and Gnathion) and maximum facial breadth(distance between two zygomatic prominences from Right zygonion to Left zygonion). Methods:A total of one hundred and twelve (112) First year medical students studying at Sheri Kashmir Institute of Medical Sciences Bemina Srinagar, Kashmir were chosen as the subjects for the present study. The study was carried out at Department of Anatomy, Sheri Kashmir Institute of Medical Sciences Bemina Srinagar Kashmir. Results:The conducted research provides important information concerning the total facial index (TFI), face shape, and facial phenotype in the adult population. The mean values of the morphological facial height and facial breadth in males were, respectively150mm and 155.5mm.while in females, respectively were: 142.5 mm and 170.0mm . Conclusion:Keeping in view the results obtained in this study we concluded that the dominant facial phenotype in the medical students of sheri Kashmir Institute of medical sciences is EuryproscopicandLeptoproscopic in male students and in male students.The results obtained may be harnessed as a reference for facial analysis that will be further useful in Orthodontics, anthropological research, forensics, genetic research and reconstructive surgery.

Mapping varied mental representations: The case of representing illegalized immigrants

How do people represent social categories? To answer this question, aggregate mental representations would typically be estimated at the sample level or within theory-derived individual differences (e.g., conservatives vs. liberals). However, these approaches can fail to capture the heterogeneous contours of collective beliefs. We introduce a novel data-driven approach that first clusters mental representations by similarity and then identifies which measures best differentiate between clusters. We apply this approach to understand mental representations of illegalized immigrants. Representations were estimated using face-based reverse correlation from border states, Texas and California (N = 1002), along with various measures thought to influence perceptions of immigrants: attitudes, demographics, ideologies, social geographic characteristics, and a manipulation of labels (i.e.., “undocumented” vs “illegal” immigrant). Comparative analyses revealed how the aggregate approach hid representational clusters that differed on visualized facial phenotype and affective expressions. Furthermore, the clusters were differentiated by characteristics not typically measured in social psychology: age and local population size perceptions. Data-driven approaches therefore offer a useful tool for identifying unexpected sources of shared beliefs by centering representational variation in investigations of mental representations.

Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family

ABSTRACT Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria. The index case presented at age of 8.5 years with severe short stature: low level of Insulin-like growth factor 1 (IGF-1), elevated levels of fasting and post-stimulation growth hormone (GH), consistent with the diagnosis of Laron syndrome. At the age of 9.5 years, she developed non-autoimmune subclinical hypothyroidism treated with Levothyroxine, then she developed dyslipidemia at the age of 11.3 years. Later, we identified two female siblings of the patient with Laron syndrome. Laron syndrome is a rare genetic disease, reporting of new cases of this rare syndrome must encourage pediatricians to develop high clinical suspicion if faced with patients with very short stature and typical facial features.

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%.

Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report

Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, movement disorders with dystonia and choreoathetosis, ataxia, dysarthria, dysmetria, and dysdiadochokinesis. Epilepsy is a common manifestation of the disease (around 70 % of cases), from the age of 6 months to 26 years. Semiology of seizures is vary, including infantile spasms, myoclonic, tonic or clonic seizures with nonspecific electroencephalographic changes. magnetic resonance imaging shows normal brain development at an early age and cortical and cerebellar atrophy developing over time. The authors present a clinical case describing a patient with a causative de novo variant (c.2152delT) in the IRF2BPL gene in Russia.This patient was included to common table in an article entitled “De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy” (DOI: 10.1038/s41436-018-0143-0).

A cross-sectional study of facial index in Western Uttar Pradesh population between 18-25 years of age

Background: Facial anthropometry is the scientific study of measurements and proportions of the human face. There is huge paucity in the metric measurements of face in Indian population. This study is involved in collecting facial anthropometric data of Western Uttar Pradesh population of age group between 18-25 years. Aims and Objectives: This study aims at evaluating predominant facial phenotype, using facial height and facial width of Western Uttar Pradesh population as study subjects. Materials and Methods: The study was conducted on 200 medical and paramedical students of Shri Ram Murti Smarak Institute of Medical Sciences (SRMS-IMS), Bareilly, Uttar Pradesh. The study subjects were of 18-25 year’s age, belonging to Western Uttar Pradesh region. Digital Vernier Caliper was used to measure the facial parameters. The data was analyzed using statistical tool SPSS 16.0 version. Results: In the present study it is found that facial height and width are more in males compared to females. This difference is statistically significant. On analyzing facial index, hyperleptoprosopic face is the predominant phenotype in males as well as in females, followed by leptoprosopic type in males and mesoprosopic type in females. However, gender differences in facial index are not statistically significant at p<0.05. Conclusion: The current study reveals that facial parameters can be used to determine the gender of an individual on the basis of height and width.

Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report

Background DiGeorge syndrome, also known as ‘CATCH 22’, is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the cardiac and endocrine systems. One form of endocrine system dysfunction is hypocalcaemia, which causes arrhythmic events and can result in a transient loss of consciousness. We present a case highlighting the late diagnosis of DiGeorge syndrome in a patient with recurrent episodes of syncope due to suspected arrhythmic events secondary to hypocalcaemia. Case summary A 44-year-old woman was referred for further investigation of recurrent syncope episodes and documented transient QT-prolongation with hypocalcaemia. Previous detailed cardiological examination, including invasive procedures such as coronary angiography and cardiac magnetic resonance tomography, was unremarkable. Slight characteristic facial dysmorphia and transient hypocalcaemia were strongly suggestive of DiGeorge syndrome. The diagnosis was confirmed by genetic testing. Calcium substitution was initiated and no recurrent episodes of syncope or arrhythmic events were reported during 12 months of follow-up. Discussion Clinical presentation and time of manifestation of the DiGeorge syndrome varies widely depending on the mutation expression extent. An atypical disease course may delay the diagnosis and appropriate management of affected patients. In this case, confirmation of the diagnosis allowed the initiation of appropriate treatment, reducing the risk for further events. Given that syncope and arrhythmia can be the first and only manifestation of late-onset DiGeorge syndrome, specialists in adult cardiology need to be aware of this presentation.