Kenneth Rosenbaum

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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)
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)
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)
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)
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)
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)
Statistical shape models generally characterize shape variations linearly by principal component analysis (PCA), which assumes that the non-rigid shape parameters are drawn from a Gaussian distribution. This practical assumption is often not valid. Instead, we propose a constrained local model based on independent component analysis (ICA) and use kernel(More)