Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Williams Report”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources
PubMed1997

[Extended aortoplasty for supravalvular aortic stenosis with Williams syndrome].

We report a male case of supravalvular aortic stenosis associated with Williams syndrome requiring surgery at age 11. At 5 years of age, this boy presented with a harsh systolic heart murmur and was diagnosed as having a supravalvular aortic stenosis. In association with mental retardation, elfin face and bilateral inguinal hernias, he was diagnosed as a Williams syndrome confirmed by the chromosomal analysis revealing the deletion of 7q11.23. The pressure gradient across the stenotic lesion of the ascending aorta, which had been 35 mmHg at age 5, progressed to 80 mmHg at age 11 years. Extended aortoplasty was performed using a patch of 20 mm Hemashield graft prosthesis. Postoperative cardiac catheterization confirmed that the pressure gradient in the ascending aorta completely disappeared following surgery.

Aorta↗
PubMed1988

Progressive vascular lesions in Williams-Beuren syndrome.

We report two patients with Williams-Beuren syndrome. The first patient showed no evidence of coarctation of the aorta at the first examination. Seven years later, she developed coarctation of the aorta. In the second patient, we found the progression of renal artery stenosis by serial angiography. We report that vascular lesions may be progressive in Williams-Beuren syndrome.

Adolescent↗
PubMed1994

Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome.

We report on cytoarchitectonic neocortical findings in a patient with Williams syndrome (WS), a rare genetic disorder resulting in characteristic facies, heart defect, other connective tissue anomalies, and a unique neurobehavioral profile. Cytoarchitectonic anomalies include exaggerated horizontal organization of neurons within layers, most striking in area 17; increased cell packing density throughout brain regions; abnormally clustered and oriented neurons. Overall, posterior forebrain areas were markedly diminished in volume. The results suggest that brain anomalies may relate to the extreme visuospatial deficit in WS, the dysregulation of apoptotic cell death, and the genetic basis of WS, a hemizygous deletion including the elastin locus on chromosome 7. This case provides opportunities for linking brain findings to cognitive deficits and their genetic underpinnings.

Abnormalities, Multiple↗
PubMedDate not supplied

Williams (Elfin Facies) syndrome: review of the literature and report of a rare case.

Williams (Elfin Facies) syndrome is a rare, devastating, sporadic disorder first described in 1961. Approximately 100 cases have been reported in the literature. The disorder is characterized by multiple anomalies including mental deficiency, an unusual (elfin) facies, supravalvular aortic stenosis, prenatal and postnatal growth deficiency, infantile hypercalcemia, a small mandible, and frequent dental problems. Because of these anomalies, the dentist contributes significantly to the successful management of these patients. Infant dental care, nutrition counseling, and restorative care are extremely important for maximizing the quality of life for patients with Williams syndrome. A review of the literature and the successful management of a patient with Williams syndrome are presented.

Abnormalities, Multiple↗
PubMed1979

Microsurgical lumbar discectomy: preliminary report of 83 consecutive cases.

The application of microsurgical technique to lumbar discectomy may be of dual value: minimal disruption of the integrity of normal anatomy and meticulous hemostasis may help to speed the process of convalescence, and the retention of epidural fat around the nerve root may help to prevent adhesions, a common cause of the late, "failed disc" syndrome. The authors report their experience with 83 consecutive microdiscectomies for lumbar disc protrusions. The results must be considered as tentative because the follow-up period has been short and the authors found it difficult to quantify the quality of health during the convalescent phase, although this seemed to be excellent. Their short term results are similar to those of the larger series reported by Williams, whose experience with microsurgical lumbar discectomies began 6 years ago. No other series have been reported. The authors describe their technique and compare it to that of Williams.

Adult↗
PubMed2006

Periventricular nodular heterotopia and Williams syndrome.

We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.

Cerebral Ventricles↗
PubMed2000

Rickets in an infant with Williams syndrome.

Calcium homeostasis is altered in patients with Williams syndrome. We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. Fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin D-deficient formula with standard formula led to resolution of the rickets.

Calcium↗
PubMed2002

Central precocious puberty in girls with Williams syndrome.

We report an estimated prevalence of precocious puberty of 1 in 5 to 6 girls with Williams syndrome (18.3%). Mean menarcheal age of 86 girls with Williams syndrome was 11.5 +/- 1.7 (+/-SD) years. Distribution of menarcheal age was significantly different from that in normal girls (12.9 +/- 1.1 years; n = 759).

Adolescent↗
PubMed2003

Oligoyric microcephaly in a child with Williams syndrome.

We report a 19-month-old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly.

Abnormalities, Multiple↗
PubMedDate not supplied

Confidence intervals and p-values for Williams' and other step-down multiple comparison tests against control.

When single-step multiple comparison tests against control, such as Dunnett's test, are used, p-values and confidence intervals can be reported. However, Williams' test and other step-down multiple comparison tests only provide results in terms of statistical significance. In this paper, approximate confidence intervals are proposed for some step-down multiple comparison tests and their coverage properties are assessed by simulation; p-values are readily calculated. The proposed simultaneous confidence intervals associated with Williams' test, Dunnett's step-down test, and the closed t test are all found to have good coverage, typically between 94% and 96% for a nominal value of 95%. Thus practicing statisticians can now quote p-values for these tests and use simple confidence intervals to aid interpretation of test results.

Computer Simulation↗
PubMed1999

Molecular characterization of total kininogen deficiency in Japanese patients.

Kininogens are multifunctional plasma glycoproteins. There are two forms of human kininogen: low molecular weight kininogen (LK) and high molecular weight kininogen (HK). Both are derived from the same gene by alternative splicing. Some patients with kininogen deficiency have been reported to be deficient only in HK while others are deficient in both HK and LK (total kininogen deficiency). We analyzed three Japanese patients with total kininogen deficiency by the Csp45I digestion study of exon 5 as previously reported in Williams trait and found that two had the same point mutation of C to T at base 22 of exon 5, resulting in a transition of CGA (Arg) codon to TGA (Stop) codon. This is the first report of molecular characterization of total kininogen deficiency in the Japanese population.

Codon↗
PubMed1997

Progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams syndrome.

UNLABELLED: We report a 3-year-old child with Williams syndrome in whom the first vascular feature of the syndrome was a myocardial infarction related to the occlusion of the left main coronary artery trunk. This coronary artery occlusion was not associated with supravalvular aortic stenosis. CONCLUSION: This report emphazises that acute vascular events related to systemic artery anomalies may reveal Williams syndrome.

Child, Preschool↗