Kenneth Rosenbaum

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A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone disease have been reported. CRTAP forms a complex with cyclophilin B and prolyl 3-hydroxylase 1, which is encoded by LEPRE1 and hydroxylates one residue(More)
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported,(More)
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions(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)
Craig Sable, MD, FAHA, Co-Chair; Elyse Foster, MD, FAHA, Co-Chair; Karen Uzark, PhD, PNP, FAHA, Co-Chair; Katherine Bjornsen, BSN, ARNP; Mary M. Canobbio, RN, MN, FAHA; Heidi M. Connolly, MD; Thomas P. Graham, MD, FAHA; Michelle Z. Gurvitz, MD, MS; Adrienne Kovacs, PhD, CPsych; Alison K. Meadows, MD, PhD; Graham J. Reid, PhD, CPsych; John G. Reiss, PhD;(More)
Conventional cytogenetics is a useful clinical tool that has a lower limit of sensitivity of 2-5 Mb for detection of duplications or deletions. Because the threshold of clinically significant aneusomy is below this range, there is a need for approaches to improve the sensitivity of the detection of aneusomy. We have implemented a system of screening for(More)
Congenital aneurysms of the muscular interventricular septum are rare. We report two brothers with this disease and their father, who had marked thinning of part of the muscular interventricular septum with paradoxical motion. These cases lend support to the idea that these aneurysms are the result of an inherited defect in the myocardium.
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)
Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently(More)
Teeth of seven patients from the Brandywine isolate who had dentinogenesis imperfecta (DI) type III were evaluated by clinical, radiologic, and scanning electron microscopic techniques. The deciduous and permanent teeth were opalescent, and there was marked attrition. Enamel pitting was present on some permanent teeth. Anterior open bites were found in all(More)