Williams Syndrome Medline Alert - January - March 1997

April - June 1997


Record  1

Supravalvar and valvar aortic stenosis associated with valvar and subvalvar pulmonary stenosis. Coexistence of two clinical syndromes (Estenose supravalvar e valvar aortica associada a estenose infundibulo valvar pulmonar. Coexistencia de duas sindromes clinicas.) Atik FA; Souto FA; Furlanetto BH; Furlanetto G; Soraggi AM; da Costa AJ Hospital Geral de Sao Paulo, Ministerio do Exercito, SP. Arq Bras Cardiol (BRAZIL) May 1996, 66 (5) p281-4, ISSN 0066-782X Languages: PORTUGUESE Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract

A 4 year old patient with congenital rubella syndrome, confirmed serologically, presents with neurosensorial deafness and a rare association of cardiac anomalies: supravalvar and valvar aortic stenosis and subvalvar pulmonary stenosis. Bidimensional echocardiography and angiography confirmed the diagnosis and the surgical treatment was successful. Due to the presence of somatic characteristics of Williams's syndrome, mental retardation and supraortic stenosis, the authors postulate that there is a coexistence of clinical syndromes responsible for the malformations of this case. This fact is rare on clinical settings, requiring accurate diagnosis and treatment.


Record 2

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Brondum-Nielsen K; Beck B; Gyftodimou J; Horlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N John F. Kennedy Institute, Glostrup, Denmark. [email protected] Hum Genet (GERMANY) Jan 1997, 99 (1) p56-61, ISSN 0340-6717 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.


Record 3

Memory abilities in children with Williams syndrome. Vicari S; Brizzolara D; Carlesimo GA; Pezzini G; Volterra V IRCCS Ospedale Pediatrico Bambino Gesu, Santa Marinella, Roma. Cortex (ITALY) Sep 1996, 32 (3) p503-14, ISSN 0010-9452 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams syndrome (WS) is a rare genetic condition characterised by intellectual disability, typical facial dysmorphology and several medical anomalies. A specific neuropsychological profile with a dissociation between language (relatively preserved) and visuo-spatial abilities (more seriously impaired) has been hypothesised in these children. Memory abilities of these patients have not been adequately investigated, although they may substantially contribute to better understanding their neuropsychological profile. The present study aimed at investigating verbal and spatial memory in patients with WS (N = 16). Their performance was compared with that of normally developing children on tasks of verbal and spatial span and immediate and delayed recall of verbal and visuo-perceptual materials. Memory abilities of WS children appear to be characterised by defective visuo-spatial memory, both in the short-term and long-term domain, and a dissociation between normal short- but deficient long-term verbal learning. Results are interpreted by supporting the thesis that intellectual disability reflects the defective functioning of a complex system in which some cognitive competencies may be disrupted more than others (Detterman, 1987; Vicari, Albertini and Caltagirone, 1992).


Record 4

Late death from aneurysm rupture following balloon angioplasty for branch pulmonary artery stenosis. Zeevi B; Berant M; Blieden LC Cardiology Institute, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel. Cathet Cardiovasc Diagn (UNITED STATES) Nov 1996, 39 (3) p284-6, ISSN 0098-6569 Languages: ENGLISH Document type: JOURNAL ARTICLE

We report on a child with Williams syndrome who died from aneurysm rupture 2 weeks following balloon angioplasty for branch pulmonary artery stenosis.


Record 5

Williams syndrome associated with chronic renal failure and various endocrinological abnormalities. Ichinose M; Tojo K; Nakamura K; Matsuda H; Tokudome G; Ohta M; Sakai S; Sakai O Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo. Intern Med (JAPAN) Jun 1996, 35 (6) p482-8, ISSN 0918-2918 Languages: ENGLISH Document type: JOURNAL ARTICLE

A 31-year-old man who had been under regular hemodialysis for 6 months was diagnosed as Williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WS and chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis. Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS.


Record 6 Supravalvular aortic stenosis without Williams syndrome. Ozergin U; Sunam GS; Yeniterzi M; Yuksek T; Solak T; Solak H Department of Thoracic and Cardiovascular Surgery, Faculty of Medicine, University of Selcuk, Konya, Turkey. Thorac Cardiovasc Surg (GERMANY) Aug 1996, 44 (4) p219-21, ISSN 0171-6425 Languages: ENGLISH Document type: JOURNAL ARTICLE

In this article, the case of a 30-years-old female patient with supravalvular aortic stenosis is reported. Her clinical picture was otherwise completely different from Williams syndrome. Since supravalvular aortic stenosis is rarely seen, its forms are discussed and it is concluded that supravalvular aortic stenosis can be present without Williams syndrome.


Record 7

Reduced stereoacuity in Williams syndrome. Sadler LS; Olitsky SE; Reynolds JD Department of Pediatrics, State University of New York at Buffalo, Children's Hospital, NY 14222, USA. Am J Med Genet (UNITED STATES) Dec 18 1996, 66 (3) p287-8, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE

Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of the 8 remaining patients, examination of binocular function was possible in 6, all of whom demonstrated reduced stereoacuity. We speculate that subnormal binocular vision and the poor visuospatial performance observed in patients with WS may be related to abnormal brain morphogenesis in the region of the occipitoparietal cortex.


Record 8

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR Genetics Laboratory, Salisbury District Hospital, UK. J Med Genet (ENGLAND) Dec 1996, 33 (12) p986-92, ISSN 0022-2593 Languages: ENGLISH Document type: JOURNAL ARTICLE

Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of chromosome 11 (del(11)(q13.5q14.2)). In the suspected WBS group 2/22 (9%) patients had elastin deletions but a third patient had a complex karyotype including a ring chromosome 22 with a deletion of the long arm (r(22)(p11-->q13)). In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. Overall, some patients with submicroscopic elastin deletions have fewer features of Williams-Beuren syndrome than those with other cytogenetic abnormalities. These results, therefore, emphasise the importance of a combined conventional and molecular cytogenetic approach to diagnosis and suggest that the degree to which submicroscopic deletions of chromosome 7 extend beyond the elastin locus may explain some of the phenotypic variability found in Williams-Beuren syndrome.


Record 9

Subnormal binocular vision in the Williams syndrome. Olitsky SE; Sadler LS; Reynolds JD Department of Ophthalmology, Children's Hospital of Buffalo, State University of New York at Buffalo 14222, USA. J Pediatr Ophthalmol Strabismus (UNITED STATES) Jan-Feb 1997, 34 (1) p58-60, ISSN 0191-3913 Languages: ENGLISH Document type: JOURNAL ARTICLE

PURPOSE: Patients with Williams syndrome have been found to have a high prevalence of strabismus. This may be due to a primary sensory abnormality. The purpose of this study was to determine the prevalence of subnormal binocular vision in patients with Williams syndrome. METHODS: Patients being followed in an interdisciplinary Williams syndrome clinic were prospectively evaluated to determine their binocular status. RESULTS: Eleven patients with Williams syndrome underwent an ophthalmologic evaluation. Twenty-seven percent of patients had strabismus (3/11). Eight patients demonstrated no measurable strabismus. Six of these patients were found to have monofixation syndrome. CONCLUSIONS: There is a high prevalence of subnormal binocular vision in Williams syndrome. This subnormal binocular vision may explain the high prevalence of strabismus in this syndrome.


Record 10

How common is precocious puberty in patients with Williams syndrome? (letter) Scothorn DJ; Butler MG Clin Dysmorphol (ENGLAND) Jan 1997, 6 (1) p91-3, ISSN 0962-8827 Languages: ENGLISH Document type: LETTER


Record 11

Linguistic abilities in Italian children with Williams syndrome. Volterra V; Capirci O; Pezzini G; Sabbadini L; Vicari S Institute of Psychology, C.N.R., Department of Neuropsychology of Language and Deafness, Rome. [email protected] Cortex (ITALY) Dec 1996, 32 (4) p663-77, ISSN 0010-9452 Languages: ENGLISH Document type: JOURNAL ARTICLE

Recent studies on subjects with Williams syndrome (WS) have revealed a particular facility for language, rarely observed in other mental retarded populations, inspiring much belief in the independence of language from cognition. Lexical and morphosyntactic abilities of 17 Italian WS individuals, between 4.10 and 15.3 years of age, were evaluated both in comprehension and production and compared with those of normally developing Italian children. WS subjects look similar to normal controls in lexical comprehension, but they appear to perform more poorly in grammatical comprehension. Furthermore they look deviant from normals in some morphosyntactic aspects of their production. They perform better than normal controls only with respect to phonological fluency, when semantic aspects are not involved. Our data show very little evidence for a dissociation between language and cognition.


Record 12

Picture of the month. William-Beuren syndrome. Pankau R; Partsch CJ; Gosch A; Winter M; Wessel A Department of Pediatrics, University of Kiel, Germany. Arch Pediatr Adolesc Med (UNITED STATES) Feb 1997, 151 (2) p203-4, ISSN 1072-4710 Languages: ENGLISH Document type: JOURNAL ARTICLE


Record 13

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Dutly F; Schinzel A Institut fur Medizinische Genetik, Universitat Zurich, Switzerland. Hum Mol Genet (ENGLAND) Dec 1996, 5 (12) p1893-8, ISSN 0964-6906 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. Segregation analysis of grandparental markers flanking the microdeletion region in WBS patients and their parents indicated that in the majority of cases a recombination between grandmaternal and grandpaternal chromosomes 7 at the site of the deletion had occurred during meiosis in the parent from whom the deleted chromosome stemmed. Thus, the majority of deletions were considered a consequence of unequal crossing-over between homologous chromosomes 7 (interchromosomal rearrangement) while in the remaining cases an intrachromosomal recombination (between the chromatids of one chromosome 7) may have occurred. These results suggest that the majority of interstitial deletions of the elastin gene region occur during meiosis, due to unbalanced recombination while a minority could occur before or during meiosis probably due to intrachromosomal rearrangements. The recurrence risk of the interchromosomal rearrangements for sibs of a proband with non-affected parents must be negligible, which fits well with the observation of sporadic occurrence of almost all cases of WBS.


Record 14

The Williams syndrome: an Italian collaborative study. Franceschini P; Guala A; Vardeu MP; Signorile F; Franceschini D; Mastroiacovo P; Gianotti A; Livini E; Lalatta F; Selicorni A; Andria G; Scarano G; Della Monica M; Rizzo R; Zelante L; Stabile M; Gabrielli O; Neri G Istituto di Discipline Pediatriche, Universita degli Studi, Torino. Minerva Pediatr (ITALY) Oct 1996, 48 (10) p421-8, ISSN 0026-4946 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.


Record 15

Pancreatic adenocarcinoma: epidemiology and genetics. Flanders TY; Foulkes WD Department of Medicine, McGill University, Montreal General Hospital, Quebec, Canada. J Med Genet (ENGLAND) Nov 1996, 33 (11) p889-98, ISSN 0022-2593 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, MULTICASE; REVIEW, TUTORIAL

Pancreatic adenocarcinoma is an important cause of death from cancer throughout the developed world. There are few established environmental risk factors, but a previous history of pancreatitis and exposure to tobacco and salted food appear to be the most important. A family history of pancreatic adenocarcinoma is not common in patients with this disease, but recent research has shown that pancreatic adenocarcinoma can be a feature of cancer susceptibility syndromes associated with germline mutations in p16, BRCA1, BRCA2, and APC. This highlights the need for a full family history in apparently sporadic cases. Somatic mutations in p16, BRCA2, and APC have also been reported in pancreatic cancer; however, K-RAS mutations appear to be the commonest oncogenic alteration. Recent advances in our understanding of the basis of hereditary cancer syndromes may be applicable to the diagnosis, treatment, and possibly prevention of pancreatic adenocarcinoma in the future. (121 Refs.)


Record 16

Williams syndrome in Slovakia (letter) Bzduch V Am J Med Genet (UNITED STATES) Nov 11 1996, 65 (4) p366, ISSN 0148-7299 Languages: ENGLISH Document type: LETTER


Record  17

Williams syndrome: a guide to diagnosis and treatment. Gustafson R; Traub D USD Medical School, Rapid City, USA. S D J Med (UNITED STATES) Mar 1997, 50 (3) p89-91, ISSN 0038-3317 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams syndrome is a congenital disorder characterized by mental retardation, vascular abnormalities including supravalvular aortic stenosis, and a loquacious personality. The genetic etiology of this syndrome has recently been isolated to the seventh chromosome, namely the elastin gene. Initial diagnosis of Williams syndrome rests largely with practitioners who see children in the first two years of a child's life, and the health and longevity of individuals with the disorder may depend heavily on accurate and timely diagnosis. Although often diagnosed in childhood, the adolescent and adult with Williams syndrome may also benefit from the diagnostic skills of an alert physician.


Record 18

[Williams syndrome] Momma K Department of Pediatric, Cardiology, Tokyo Women's Medical College. Ryoikibetsu Shokogun Shirizu (JAPAN) 1996, (15) p229-31, Languages: JAPANESE Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL (17 Refs.)


Record 19

Microdeletion of chromosomal region 7Q11.23 in Williams syndrome. Hou JW; Wang JK; Wang TR Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC. J Formos Med Assoc (TAIWAN) Feb 1997, 96 (2) p137-40, ISSN 0929-6646 Languages: ENGLISH Document type: JOURNAL ARTICLE

We report two children with typical Williams syndrome facial appearance, growth deficiency and developmental delay. Both had supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS), but no hypercalcemia. Chromosomal study in the first case, a 40-day-old girl, revealed a cytogenetically visible proximal interstitial deletion of the 7q11.22-11.23 segment. Another patient, a 3-year-old boy, with a normal karyotype, had milder phenotype with spontaneous remission of SVAS and PPS. Both patients showed allelic loss of the elastin (ELN) gene, exhibiting a submicroscopic deletion at 7q11.23, which was detected by fluorescence in situ hybridization (FISH). The results support the usefulness of FISH for detection of ELN gene deletion as an initial diagnostic assay for patients with SVAS or Williams syndrome. To our knowledge, these are the first cases of Williams syndrome in Taiwanese patients to be proven clinically, cytogenetically and by molecular analysis.


Record 20

Language acquisition: the acquisition of linguistic structure in normal and special populations. McDonald JL Department of Psychology, Louisiana State University, Baton Rouge 70803, USA. Annu Rev Psychol (UNITED STATES) 1997, 48 p215-41, ISSN 0066-4308 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL

This review examines how language learners master the formal structure of their language. Three possible routes to the acquisition and mastery of linguistic structure are investigated: (a) the use of prosodic and phonological information, which is imperfectly correlated with syntactic units and linguistic classes; (b) the use of function words to syntactically classify co-occurring words and phrases, and the effect of location of function-word processing on structural mastery; and (c) the use of morphology internal to lexical items to determine language structure, and the productive recombination of these subunits in new items. Evidence supporting these three routes comes from normal language acquirers and from several special populations, including learners given impoverished input, learners with Williams syndrome, specific language-impaired learners, learners with Down syndrome, and late learners of first and second languages. Further evidence for the three routes comes from artificial language acquisition experiments and computer simulations. (105 Refs.)


Record 21

Similarities in genetic mental retardation and neuroteratogenic syndromes. Adams J Department of Psychology, University of Massachusetts/Boston 02125, USA. Pharmacol Biochem Behav (UNITED STATES) Dec 1996, 55 (4) p683-90, ISSN 0091-3057 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL Principles and mechanisms of neurobehavioral teratogenesis are used to show commonalities between manifestations of abnormal development consequent to genetic abnormality or teratogenic exposure. A comparison and contrast of both the neuropathological and neuropsychological characteristics of children with early embryonic exposure to isotretinoin (Accutane) or with selected mental retardation syndromes is presented. Putative mechanisms of retinoid teratogenesis through the disruption of normal retinoid-triggered embryogenesis and the alteration of homeobox gene expression are discussed. Interference with homeobox gene expression as an avenue to the perturbation of early developmental processes and the production of hindbrain and craniofacial abnormalities is then proposed as a common basis for the translation and expression of several genetic mental retardation syndromes. Finally, dose-response effects and other modulators of vulnerability to abnormal development are used to provide a conceptual framework for the understanding of variability in the expression of genetically caused abnormalities. (75 Refs.)


Record 22

Human genetics: dissecting Williams syndrome. Monaco AP Wellcome Trust Centre for Human Genetics, University of Oxford, UK. Curr Biol (ENGLAND) Nov 1 1996, 6 (11) p1396-8, ISSN 0960-9822 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome. (14 Refs.)


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