نتایج جستجو برای: dysmorphology

تعداد نتایج: 421  

2009
Katarzyna Wilamowska Linda Shapiro Carrie Heike

Given a set of labeled 3D meshes acquired from stereo imaging of heads, the goal of this research is to develop a successful methodology for discriminating between 22q11.2 Deletion Syndrome affected individuals and the general population and for quantifying the degree of dysmorphology of facial features. Although many approaches for such discrimination exist in the medical and computer vision l...

2017
Christopher J Percival Pauline Marangoni Vagan Tapaltsyan Ophir Klein Benedikt Hallgrímsson

Inbred genetic background significantly influences the expression of phenotypes associated with known genetic perturbations and can underlie variation in disease severity between individuals with the same mutation. However, the effect of epistatic interactions on the development of complex traits, such as craniofacial morphology, is poorly understood. Here, we investigated the effect of three i...

Journal: :Pediatrics 2014
Philip A May Amy Baete Jaymi Russo Amy J Elliott Jason Blankenship Wendy O Kalberg David Buckley Marita Brooks Julie Hasken Omar Abdul-Rahman Margaret P Adam Luther K Robinson Melanie Manning H Eugene Hoyme

OBJECTIVES To determine the prevalence and characteristics of fetal alcohol spectrum disorders (FASD) among first grade students (6- to 7-year-olds) in a representative Midwestern US community. METHODS From a consented sample of 70.5% of all first graders enrolled in public and private schools, an oversample of small children (≤ 25th percentile on height, weight, and head circumference) and r...

Journal: :Journal of anatomy 2007
Cheryl A Hill Roger H Reeves Joan T Richtsmeier

Adult craniofacial morphology results from complex interactions among genetic, epigenetic and environmental factors. Trisomy causes perturbations in the genetic programmes that control development and these are reflected in morphology that can either ameliorate or worsen with time and growth. Many of the specific changes that occur in Down syndrome can be studied in the Ts65Dn trisomic mouse, w...

Journal: :Drug and alcohol dependence 2016
Philip A May Anna-Susan Marais Marlene M de Vries Wendy O Kalberg David Buckley Julie M Hasken Colleen M Adnams Ronel Barnard Belinda Joubert Marise Cloete Barbara Tabachnick Luther K Robinson Melanie A Manning Kenneth Lyons Jones Heidre Bezuidenhout Soraya Seedat Charles D H Parry H Eugene Hoyme

BACKGROUND The prevalence and characteristics of the continuum of diagnoses within fetal alcohol spectrum disorders (FASD) were researched in a fifth sample in a South African community. METHODS An active case ascertainment approach was employed among all first grade learners in this community (n=862). Following individual examination by clinical geneticists/dysmorphologists, cognitive/behavi...

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