نتایج جستجو برای: dysmorphology
تعداد نتایج: 421 فیلتر نتایج به سال:
Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anoma...
Ciliopathies are a broad class of human disorders with craniofacial dysmorphology as a common feature. Among these is high arched palate, a condition that affects speech and quality of life. Using the ciliopathic Fuz mutant mouse, we find that high arched palate does not, as commonly suggested, arise from midface hypoplasia. Rather, increased neural crest expands the maxillary primordia. In Fuz...
Surface-based morphometry (SBM) is widely used in biomedical imaging and other domains to localize shape changes related to different conditions. This paper presents a computational framework that integrates a set of effective surface registration and analysis methods to form a unified SBM processing pipeline. Surface registration includes two parts: surface alignment in the object space by emp...
To determine the significance of neuropsychiatric disorders in autism families, we analyzed 167 pedigrees ascertained through an autistic child; 39% had alcoholism in patterns consistent with transmission of a genetic trait. Children from high alcoholism families were more likely to have the onset of their autistic behavior occur with a loss of language (52.5% vs. 35.8%, p = 0.04). This occurre...
This paper summarizes and discusses the results of several morpholexical and morphosyntactic experiments with two Italian patients who showed typical agrammatic features in speech production following neurological damage to the left cerebral hemisphere. Issues addressed in this study are whether the impoverished morphology in the patients' speech is due to impaired morpholexical functioning in ...
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