scholarly journals Two Cases of Diverticulitis in Patients With Williams Syndrome

2011 ◽  
Vol 96 (1) ◽  
pp. 64-68 ◽  
Author(s):  
H. Yamada ◽  
S. Ishihara ◽  
T. Akahane ◽  
R. Shimada ◽  
A. Horiuchi ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Abdominal Pain ◽  
Surgical Treatment ◽  
Aortic Stenosis ◽  
Present Article ◽  
Williams Syndrome ◽  
Gene Deletion ◽  
Heart Defects ◽  
Chromosome 7 ◽  
Colon Diverticulosis

Abstract Williams syndrome is rare and associated with physical anomalies and mental retardation. It is a disease resulting from a gene deletion of chromosome 7. The main concurrent medical conditions typically associated with Williams syndrome are heart defects such as supravalvular aortic stenosis, mental retardation, and unusual physical characteristics. It is also associated with colon diverticulosis and diverticulitis. In the present article, we report on 2 cases of diverticulitis in patients with Williams syndrome, in whom surgery was performed. In many cases of diverticulitis in patients with Williams syndrome, surgical treatment is indicated. It is important to take diverticulitis into consideration when examining a patient with Williams syndrome presenting with abdominal pain and consider surgical treatment if necessary.

Clinical manifestations of Williams syndrome in children

2021 ◽  
Vol 16 (3) ◽  
pp. 54-61
Author(s):  
A.V. Vitebskaya ◽  
◽  
N.V. Frolkova ◽  
M.D. Shakhnazarova ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Williams Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Key Words Children ◽  
Chromosome 7 ◽  
Pathological Changes ◽  
Phenotypic Characteristics ◽  
Pathological Conditions

Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic disorder affecting many organs and caused by hemizygous deletions of the long arm of chromosome 7 (7q11. 23). In this article, we describe typical pathological changes in the cardiovascular, endocrine, urinary, digestive, and nervous systems, as well as phenotypic characteristics and psychological aspects of this disease. We also cover a correlation between clinical manifestations of WS and genes in the remote area. The article contains a summary of the main recommendations for the treatment of individual manifestations, i.e. pathological conditions associated with this syndrome. Key words: children, Williams syndrome, cardiovascular disorder, hypercalcemia, hypothyroidism, growth retardation, mental retardation

scholarly journals Williams-Beuren's Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Hassan Zamani ◽  
Kazem Babazadeh ◽  
Saeid Fattahi ◽  
Farzad Mokhtari-Esbuie
Keyword(s):  
Aortic Stenosis ◽  
Pulmonary Artery ◽  
Williams Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cognitive Disorder ◽  
Artery Stenosis ◽  
Cervical Region ◽  
Pulmonary Artery Stenosis ◽  
Heart Murmur

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome.Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

scholarly journals Williams-Beuren syndrome: Report of two cases with molecular diagnosis

2011 ◽  
pp. 523-528
Author(s):  
Carolina Vargas ◽  
Wilmar Saldarriaga ◽  
Harry Mauricio Pachajoa ◽  
Carolina Isaza
Keyword(s):  
Mental Retardation ◽  
In Situ Hybridization ◽  
Aortic Stenosis ◽  
Candidate Genes ◽  
Molecular Diagnosis ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Syndrome Report

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

scholarly journals Long deletions of the Williams syndrome region on chromosome 7 result in more severe mental retardation

1999 ◽  
Vol 1 (2) ◽  
pp. 59-59 ◽  
Author(s):  
Colleen A Morris ◽  
C B Mervis ◽  
B F Robinson ◽  
M T Keating ◽  
X Lu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Williams Syndrome ◽  
Chromosome 7 ◽  
Severe Mental Retardation

CLINICAL AND GENETIC CHARACTERISTICS AND FEATURES OF MANAGEMENT OF PATIENTS WITH WILLIAMS SYNDROME: DESCRIPTION OF THREE CASES AND LITERATURE REVIEW

2021 ◽  
Vol 100 (4) ◽  
pp. 141-147
Author(s):  
V.G. Antonenko ◽  
◽  
N.P. Kotlukova ◽  
T.V. Markova ◽  
D.V. Svetlychnaya ◽  
...  
Keyword(s):  
Literature Review ◽  
Aortic Stenosis ◽  
Blood Vessels ◽  
Williams Syndrome ◽  
Congenital Anomalies ◽  
Clinical Manifestations ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Genetic Characteristics ◽  
Behavioral Profile

Williams syndrome (OMIM 194050) is a multisystem inherited disorder associated with microdeletion of the long arm of chromosome 7 (q11.23). Typical clinical manifestations of the syndrome are supravalvular aortic stenosis and other congenital anomalies of the heart and blood vessels, facial abnormalities, neonatal hypercalcemia, lag in physical, psychomotor and mental development, unusual cognitive and behavioral profile. Patients with WS require medical supervision and prevention of complications throughout their lives. The paper presents an overview of the results of studies devoted to the study of various aspects of diagnosis and management of patients with WS. The description of the three new cases of WS addresses the main problems and possibilities of diagnosis of the disease in patients with different clinical manifestations.

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
GM Stettner ◽  
B Auber ◽  
M Shoukier ◽  
C Höger ◽  
K Brockmann
Keyword(s):  
Mental Retardation ◽  
Gene Deletion ◽  
Autistic Behavior

Delayed Pancreatic Metastasis of Renal Clear Cell Carcinoma

2013 ◽  
Vol 13 (2) ◽  
pp. 79-80
Author(s):  
Zane Simtniece ◽  
Gatis Kirsakmens ◽  
Ilze Strumfa ◽  
Andrejs Vanags ◽  
Maris Pavars ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Surgical Treatment ◽  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Primary Tumour ◽  
Renal Clear Cell Carcinoma ◽  
Pancreatic Metastasis ◽  
Distal Pancreatic Resection

Abstract Here, we report surgical treatment of a patient presenting with pancreatic metastasis (MTS) of renal clear cell carcinoma (RCC) 11 years after nephrectomy. RCC is one of few cancers that metastasise in pancreas. Jaundice, abdominal pain or gastrointestinal bleeding can develop; however, asymptomatic MTS can be discovered by follow-up after removal of the primary tumour. The patient, 67-year-old female was radiologically diagnosed with a clinically silent mass in the pancreatic body and underwent distal pancreatic resection. The postoperative period was smooth. Four months after the surgery, there were no signs of disease progression.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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