Learn More
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)
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)
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)
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.
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such aberrations but have a limit of resolution that is above the threshold for phenotypic effect. We hypothesized that a genomewide microsatellite screen could detect(More)
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define(More)
BACKGROUND Holoprosencephaly (HPE), the most common malformation of the human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE. OBJECTIVE To characterise genetic and clinical findings in patients with ZIC2 mutations. (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)
OBJECTIVE To determine if haploinsufficiency for chromosome 4p16.3 in Wolf-Hirschhorn syndrome (WHS) is associated with cochlear hearing loss. DESIGN Case series. SETTING Tertiary care center. PATIENTS Six patients with WHS were identified through a database and charts were retrospectively reviewed. MAIN OUTCOME MEASURES Presence of sensorineural(More)