Get your own Free Home PageRecord 1Dental enamel hypoplasia apropos of a case (A zomanchypoplasiarol egy eset kapcsan.) Alberth M; Dicsoffy Z; Keszthelyi G Debreceni Orvostudomanyi Egyetem, Stomatologiai Klinika, Debrecen. Fogorv Sz (HUNGARY) Mar 1996, 89 (3) p85-8, ISSN 0015-5314 Languages: HUNGARIAN Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
The developmental anomalies of dental hard tissues are relatively common in children. These anomalies can involve separately the enamel and they are due to many factors acting during odontogenesis. The paper deals with the main ethological factors and describes a case of idiopathic hypercalcemia. It is normally accompanied by aortic stenosis, mental retardation and a characteristic elfin face. This is called Williams syndrome. In this case we only found enamel hypoplasia on the cusps of the first molars.
Record 2The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion (letter) Peoples R; Perez-Jurado L; Wang YK; Kaplan P; Francke U Am J Hum Genet (UNITED STATES) Jun 1996, 58 (6) p1370-3, ISSN 0002-9297 Languages: ENGLISH Document type: LETTER
Record 3LIM-kinase1 hemizygosity implicated in imparied visuospatial constructive cognition. Frangiskakis JM; Ewart AK; Morris CA; Mervis CB; Bertrand J; Robinson BF; Klein BP; Ensing GJ; Everett LA; Green ED; Proschel C; Gutowski NJ; Noble M; Atkinson DL; Odelberg SJ; Keating MT Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA. Cell (UNITED STATES) Jul 12 1996, 86 (1) p59-69, ISSN 0092-8674 Languages: ENGLISH Document type: JOURNAL ARTICLE
To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.
Record 4
Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome. Brewer CM; Morrison N; Tolmie JL Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow. Arch Dis Child (ENGLAND) Jan 1996, 74 (1) p59-61, ISSN 0003-9888 Languages: ENGLISH Document type: JOURNAL ARTICLE
Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH) technique employing the elastin gene probe. In each case there was a fluorescent signal on one chromosome 7 homologue only, indicating elastin gene deletion. No deletion was demonstrated in another child in whom an earlier diagnosis of Williams syndrome was judged doubtful at review. Firm clinical diagnosis correlates with elastin gene deletion in 16/16 cases of Williams syndrome and detection of such hemizygosity by FISH constitutes a useful confirmatory diagnostic test.
Record 5LIM-kinase deleted in Williams syndrome (letter) Tassabehji M; Metcalfe K; Fergusson WD; Carette MJ; Dore JK; Donnai D; Read AP; Proschel C; Gutowski NJ; Mao X; Sheer D Nat Genet (UNITED STATES) Jul 1996, 13 (3) p272-3, ISSN 1061-4036 Languages: ENGLISH Document type: LETTER
Record 6Temperament in Williams syndrome. Plissart L; Borghgraef M; Fryns JP Center for Human Genetics, University of Leuven. Genet Couns (SWITZERLAND) 1996, 7 (1) p41-6, ISSN 1015-8146 Languages: ENGLISH Document type: JOURNAL ARTICLE
In this study we evaluated the temperament characteristics of a group of 13 subjects with Williams-Beuren syndrome (WBS) and compared the results to the findings in a control group of 13 individuals with the same degree of mental retardation of different etiology. On the different subscales of the Dutch adaptation of the Parent Temperament Questionnaire no statistically significant differences between the WBS and the control group were noted. An easier temperament was noted in the control group, and we also found greater intensity, less persistence and lower treshold in WBS subjects. The present findings indicate that the "specific" behavioural phenotype in WBS patients is apparently more related to mental retardation itself than to the underlying genetic defect. Further studies on a large group of WBS patients and mentally retarded control group are needed to confirm these findings.
Record 7Mid-aortic syndrome presenting in childhood. Panayiotopoulos YP; Tyrrell MR; Koffman G; Reidy JF; Haycock GB; Taylor PR Department of Surgery, Guy's Hospital, London, UK. Br J Surg (ENGLAND) Feb 1996, 83 (2) p235-40, ISSN 0007-1323 Languages: ENGLISH Document type: JOURNAL ARTICLE
Mid-aortic syndrome (MAS) is an uncommon condition characterized by segmental narrowing of the proximal abdominal aorta and ostial stenosis of its major branches. It is usually diagnosed in young adults, but may present in childhood as a challenging problem. Over the past 20 years 13 patients with MAS have presented to this institution. All had hypertension, four had associated neurofibromatosis, three persistent eosinophilia and three had Williams syndrome. In all cases arteriography showed a smooth segmental narrowing of the abdominal aorta with concomitant stenosis at the origins of the renal arteries. Six children were successfully treated with antihypertensive medication alone. Percutaneous transluminal angioplasty was attempted in two cases with poor result. Surgery was indicated in seven children with refractory hypertension and progressive renal impairment. Techniques used to revascularize the kidneys included thoracoabdominal to infrarenal aortic bypass with renal artery reimplantation, splenorenal bypass, gastroduodenal to renal bypass, aortorenal bypass and autotransplantation.
Record 8Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved. Mammi I; Iles DE; Smeets D; Clementi M; Tenconi R Department of Pediatrics, University of Padua, Italy. Hum Genet (GERMANY) Sep 1996, 98 (3) p317-20, ISSN 0340-6717 Languages: ENGLISH Document type: JOURNAL ARTICLE
We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH) reaction to general anesthesia. The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel alpha 2/delta-subunit (CACNL2A) on 7q11.23-q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted us to investigate whether this gene is deleted in WS. Linkage studies and fluorescence in situ hybridization analysis demonstrated that the CACNL2A locus is localized outside the WS deleted region.
Record 9Familial supravalvular aortic stenosis: a report of two brothers. Wu JR; Chen YH; Huang TY Department of Pediatrics, Kaohsiung Medical College, Taiwan, Republic of China. Kao Hsiung I Hsueh Ko Hsueh Tsa Chih (TAIWAN) Feb 1996, 12 (2) p128-31 , ISSN 0257-5655 Languages: ENGLISH Document type: JOURNAL ARTICLE
We studied two brothers in a family with isolated congenital supravalvular aortic stenosis without Williams syndrome. Clinical, echocardiographic, hemodynamic and angiographic features of our cases were described. A severe long, narrowed supravalvular aortic stenosis involving the ascending aorta with proximal narrowing of the aortic branches and mild aortic insufficiency were found. To the best of our knowledge, this is the first report of this combination of lesions in the Orient.
Record 10Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Pankau R; Partsch CJ; Winter M; Gosch A; Wessel A Department of Pediatrics, University of Kiel, Germany. Am J Med Genet (UNITED STATES) May 3 1996, 63 (1) p301-4, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Kidneys and urinary tract were examined systematically by ultrasonography in 130 patients with Williams-Beuren syndrome (59 females, median age 5.5 years; 71 males, median age 6.4 years). In addition, serum creatinine was determined and an analysis was performed. Creatinine clearance was available in 79 patients. Renal angiographic examinations were done in 18 patients, 8 of whom had renal artery narrowing (44%). The incidence of renal anomalies in Williams-Beuren syndrome was 17.7% vs. around 1.5% in the normal population (P < 0.0003). The spectrum of these anomalies ranged from minor anomalies such as bladder diverticula to more severe malformations such as renal aplasia or hypoplasia (in 5 of 130 patients). In nine patients a duplicated kidney was found. A decreased creatinine clearance (two patients), recurrent symptomatic urinary tract infections (four patients), and hypertension were uncommon. Nephrocalcinosis was not found in our patients. Our data demonstrate that the risk of a structural abnormality of the kidneys and the urinary tract is increased 12- to 36-fold in Williams-Beuren syndrome compared to the normal population. Ultrasound screening of the renal system should be part of the first evaluation of WBS patients.
Record 11Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993). Kitchiner D; Jackson M; Walsh K; Peart I; Arnold R Cardiac Unit, Royal Liverpool Children's NHS Trust. Heart (ENGLAND) Apr 1996, 75 (4) p396-402, ISSN 1355-6037 Languages: ENGLISH Document type: JOURNAL ARTICLE
OBJECTIVE: To determine the prognosis of supravalve aortic stenosis into early adult life and the factors affecting this prognosis. DESIGN: 81 patients with supravalve aortic stenosis were followed for a median duration of 8.3 (range 1 to 29) years. PATIENTS: 40 patients (49.4%) had Williams' syndrome, 18 (22.2%) familial supravalve aortic stenosis, 18 (22.2%) sporadic supravalve aortic stenosis, and five (6.2%) other syndromes. Nineteen patients had additional levels of left ventricular outflow tract obstruction. RESULTS: 47 patients (58%) underwent operation; 20% within a year of presentation. Multivariable analysis predicted that 88% of patients would undergo intervention within 30 years of follow up. The chance of intervention was increased by more severe aortic stenosis at presentation and the presence of multilevel obstruction in patients with sporadic supravalve aortic stenosis. Three deaths occurred before operation and 13 within a month of operation. Ten (62.5%) of the postoperative deaths were in patients with multilevel obstruction. Predicted survival 30 years after presentation was 66%. Risk factors for survival were age and severity of aortic stenosis at presentation. Multilevel obstruction did not emerge as a significant risk factor for death because of the high association with the severity of stenosis at presentation. 74% of survivors had mild or insignificant stenosis at follow up. CONCLUSIONS: Long-term survival is related to age and the severity of aortic stenosis at presentation. Most patients will require intervention, and most survivors will have mild stenosis.
Record 12A new clinical sign in Williams syndrome (letter) Withers S Arch Dis Child (ENGLAND) Jul 1996, 75 (1) p89, ISSN 0003-9888 Journal Code: 6XG Languages: ENGLISH Document type: LETTER
Record 13Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome. Schulman SL; Zderic S; Kaplan P Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, USA. J Pediatr (UNITED STATES) Sep 1996, 129 (3) p466-9, ISSN 0022-3476 Languages: ENGLISH Document type: JOURNAL ARTICLE
Thirteen of 41 patients (32%) with Williams syndrome in a multidisciplinary clinic were noted to have genitourinary symptoms. The predominant features were increased urinary frequency and daytime wetting. Four patients had bladder diverticula and uninhibited detrusor contractions as demonstrated on urodynamic studies. We speculate that there may be an association between increased detrusor pressure, an abnormal bladder matrix, and the presence of diverticula. Early detection of urinary dysfunction through clinical symptoms and appropriate urodynamic studies, with institution of bladder training and anticholinergic medication can improve the patients' voiding patterns, both medically and socially.
Record 14(Williams syndrome--a model of genetically determined right hemispheric dominance) Sindrom Vil'iamsa--model' geneticheski determinrovannogo pravopolusharnog o dominirovaniia. Bogdanov NN; Solonichenko VG Institute of Higher Nervous Activity and Neurophysiology, Filatov Children's Hospital, Moscow. Fiziol Zh Im I M Sechenova (RUSSIA) Aug 1995, 81 (8) p81-4, ISSN 0869-8139 Languages: RUSSIAN Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
Dermatoglyphic studies showed that children with the Williams syndrome had certain peculiarities of morphological as well as behavioral character. The findings suggest that the syndrome can be regarded as a genetical model of the right brain dominance.
Record 15Longitudinal study of the cognitive development in children with Williams-Beuren syndrome. Gosch A; Pankau R Department of Pediatrics, University of Kiel, Germany. Am J Med Genet (UNITED STATES) Jan 2 1996, 61 (1) p26-9, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Crisco [1990: Clin Res 38:536A] reported stability of IQs in a group of 14 children with Williams-Beuren syndrome (WBS) over a 5-year period and concluded that they display a development rate similar to normal children. The aim of our study was to examine the stability of the development of nonverbal reasoning abilities over a period of 2 years using two methods. We studied 18 children with WBS (9 girls, 9 boys) with a mean age of 6.6 years (range: 4.4-10.6 yr) at year one (T1), and approximately two years later (T2) at the average age of 8.6 years (range: 5.11-12.7 yr). The Columbia Mental Maturity Scale (CMM) and the Draw A Person Test were administered. The results show that the IQs resulting from the Draw A Person Test were stable over the 2-year period (T1: mean IQ = 63.5, T2: mean IQ = 65, t = 0.63), and display a significant correlation between the two methods (r = 0.547, P = 0.01). Furthermore, the correlation between the two tests (CMM and Draw A Person Test) at the second assessment is high and significant (r = 0.56, P = 0.01). The mean IQs at T2 can be classified as mild mental retardation. A notable result is the significant decrease of the IQs according to the CMM (T1: mean IQ = 77, T2: mean IQ = 68, t = 2.69, P = 0.01). These results suggest that the developmental outcome of children with WBS varies in specific areas of cognitive function over a 2-year period.
Record 16(Strabismus and Williams-Beuren syndrome. Presentation of 3 operated case) Strabisme et syndrome de Williams-Beuren. Presentation de trois cas operes. de Ancos E; Klainguti G Hopital Ophtalmique Jules Gonin, Unite de Strabologie, Lausanne. Klin Monatsbl Augenheilkd (GERMANY) May 1996, 208 (5) p340-2, ISSN 0023-2165 Languages: FRENCH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
BACKGROUND: Williams-Beuren syndrome (WBS) is a developmental disorder of unknown etiology. The classical features include: 1) a supravalvular aortic stenosis, 2) "elfin" facies and 3) mental deficiency. Ocular findings can be irisabnormalities (stellate, pattern), tortuositas vasorum and, though not essential for diagnosis, strabismus is commonly found. Three cases of WBS with convergent squint which underwent surgical treatment are presented. Biopsy and histological studies were performed in two cases. MATERIAL AND METHODS: Strabismus onset was diagnosed before the second year of life in all three. Pre-operative esotropia (ET) was 45, 40 and 62 delta. Age at operation was respectively 52,67 and 87 months. Surgical treatment consisted in recess-resect procedures on horizontal muscles. Biopsy was performed in two cases. RESULTS: Three months after surgery, angular measurements were respectively: exotropia (XT) 6 delta, ET 2 delta, ET 10 delta. Anatomopathological findings showed normal tendon tissue. DISCUSSION: No particular motility disturbances or pattern have been found in our patients. Amount of surgery has been chosen according to routine. Amblyopia treatment could be performed as usual. Treatment in our patients with WBS has been similar to ordinary cases of strabismus. Medium-term results do not differ from other squinting patients treated with similar procedures.
Record 17Neurologic findings in children and adults with Williams syndrome. Chapman CA; du Plessis A; Pober BR Department of Neurology, Children's Hospitaland Harvard Medical School, Bosto J Child Neurol (UNITED STATES) Jan 1996, 11 (1) p63-5, ISSN 0883-0738 Languages: ENGLISH Document type: JOURNAL ARTICLE
Twenty-four children with Williams syndrome underwent systematic neurologic evaluations. Abnormalities of mental status, motor coordination, tone, and gait were most prevalent. Tone abnormalities varied as a function of age, with younger children frequently exhibiting decreased tone and older subjects almost exclusively having increased tone. The gait and coordination abnormalities persisted among older subjects, indicating that they were not simply maturational problems. Physicians caring for such youngsters need to be aware that a variety of neurologic abnormalities are common in Williams syndrome and may change or progress over time. Neurologic examinations that reveal findings beyond the typical pattern that we report may raise suspicion for added neurologic insult and warrant further investigation.
Record 18(Williams-Beuren syndrome: diagnosis and ocular manifestations) Syndrome de Williams-Beuren: diagnostic et manifestations oculaires. Offret H; Laplace O Service d'Ophtalmologie, C.H.U. de Bicetre, Kremlin-Bicetre cedex. J Fr Ophtalmol (FRANCE) 1995, 18 (11) p699-702, ISSN 0181-5512 Languages: FRENCH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL English Abstract
A 24-year-old woman presented with a Williams-Beuren Syndrome which included a characteristic facies, cardiovascular dysfunction and neurologic troubles. Ophthalmic examination showed a stellate pattern of the iris and tortuosities of the retinal vessels. Knowledge of these ocular manifestations could help early diagnosis. (13 Refs.)
Record 19The spectrum of ocular features in the Williams-Beuren syndrome. Winter M; Pankau R; Amm M; Gosch A; Wessel A Department of Ophthalmology, University of Kiel, Germany. Clin Genet (DENMARK) Jan 1996, 49 (1) p28-31, ISSN 0009-9163 Languages: ENGLISH Document type: JOURNAL ARTICLE
One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
Record 20Unique profile of visuo-perceptual skills in a genetic syndrome. Wang PP; Doherty S; Rourke SB; Bellugi U Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, USA. Brain Cogn (UNITED STATES) Oct 1995, 29 (1) p54-65, ISSN 0278-2626 Languages: ENGLISH Document type: JOURNAL ARTICLE Williams syndrome (WS) and Down syndrome (DS) are genetic disorders with characteristic neuropsychological profiles. Subjects with WS show surface similarities to subjects with right hemisphere damage (RHD) in their relative preservation of linguistic skills, their poor visuo-constructive skills, and their hierarchical processing biases. Ten adolescents and young adults with WS and nine matched subjects with DS were administered a battery of visuospatial perceptual tasks to test whether the profile of performance in WS would resemble that in RHD. It was found instead that the WS subjects showed a distinctive clustering of skills, with particular preservation of facial discrimination, but impairment of other perceptual skills. Subjects with DS showed a more homogeneous profile. The WS profile may map onto the functional dichotomy between ventral and dorsal visual pathways in the cerebral cortex.
Get your own Free Home Page