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Down syndrome, the most common single cause of human birth defects, produces alterations in physical growth and mental retardation. If missed before birth, the early detection of Down syndrome is crucial for the management of patients and disease. However, the diagnostic accuracy for pediatricians prior to cytogenetic results is moderate and the access to(More)
Fragile X (or Martin-Bell) syndrome, a common, genetic, mental retardation disorder is increasingly being recognized as a major cause of cognitive disability and psychiatric illness in boys. Here, we present a study in which relatives in 4 generations of a large family with the fra(X) chromosome were given comprehensive psychiatric evaluations in order to(More)
In a neurofibromatosis type 1 murine model, treatment with lovastatin reversed cognitive disabilities. We report on a phase I study examining the safety and tolerability of lovastatin in children with neurofibromatosis type 1. Twenty-four children with neurofibromatosis type 1 underwent a dose-escalation protocol for 3 months to identify the maximum(More)
BACKGROUND Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM To further delineate the features of the 15q24 microdeletion syndrome, the clinical(More)
The syndrome of autism has been documented as occurring in association with a wide variety of genetic conditions. Autistic patients with a coexistent genetic condition, however, are not behaviorally or developmentally distinct from autistic patients for whom there is no known etiology or associated organic condition. This report reviews the literature(More)
Conventional statistical shape models use Principal Component Analysis (PCA) to describe shape variations. However, such a PCA-based model assumes a Gaussian distribution of data. A model with Independent Component Analysis (ICA) does not require the Gaussian assumption and can additionally describe the local shape variation. In this paper, we propose a(More)
This descriptive study examined the relationship between head size, developmental functioning, and neuroimaging findings in children with absolute microcephaly. Subjects, aged 1 to 48 months, were assigned to one of two groups based on occipitofrontal head circumference (OFC). Group A included subjects with an OFC of 2 to 2.99 standard deviations below the(More)
Down syndrome is the most common chromosomal condition that presents characteristic facial morphology and texture patterns. The early detection of Down syndrome through an automatic, non-invasive and simple way is desirable and critical to provide the best health management to newborns. In this study, we propose such a computer-aided diagnosis system for(More)
Human trisomies 13, 18, and 21 exhibit specific neuromuscular phenotypes (Pettersen and Bersu, '82) which include a high proportion of neuromuscular forelimb variations, many of which are atavistic in nature (de Beer, '58; Barash et al., '79; Aziz, '81a). In order to test the neuromuscular phenotype, examine the atavistic nature, and analyze the(More)