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

Inefficient Search of Large-Scale Space in Williams Syndrome: Further Insights on the Role of LIMK1 Deletion in Deficits of Spatial Cognition

Perception ◽  
10.1068/p6050 ◽  
2009 ◽  
Vol 38 (5) ◽  
pp. 694-701 ◽  
Author(s):  
Alastair D Smith ◽  
Iain D Gilchrist ◽  
Bruce Hood ◽  
May Tassabehji ◽  
Annette Karmiloff-Smith
Keyword(s):  
Spatial Cognition ◽  
Williams Syndrome ◽  
Large Scale ◽  
Genetic Disorder ◽  
Search Space ◽  
Scale Space ◽  
Chromosome 7 ◽  
Small Scale ◽  
Lim Kinase ◽  
Lim Kinase 1

Williams syndrome (WS) is a genetic disorder associated with impairments of spatial cognition. This has primarily been studied in small-scale space, and rarely in large-scale environments. In order to fully characterise the spatial deficits in WS, and also to address claims that the deletion of LIM-kinase 1 (LIMK1) on chromosome 7 is responsible for those deficits, we report an automated large-scale search task for humans that places the participant egocentrically within the search space. Search locations were defined as lights and switches embedded in the floor, and participants attempted to locate a hidden target by pressing the switch at potential locations. We compared individuals with WS to patients with smaller deletions (including LIMK1) in the critical region on chromosome 7. Whilst partial-deletion participants performed efficiently on the task, participants with WS demonstrated inefficient search profiles: their search slopes were steeper and they made significantly more erroneous revisits to previously inspected locations. Our findings indicate that spatial deficits associated with WS also affect large-scale spatial processing and suggest that hemizygous deletion of LIMK1 is not sufficient to account for any of the spatial deficits associated with WS.

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.

scholarly journals Williams–Beuren-szindróma (Williams-szindróma)

2017 ◽  
Vol 158 (47) ◽  
pp. 1883-1888 ◽  
Author(s):  
Györgyi Miklós ◽  
György Fekete ◽  
Irén Haltrich ◽  
Miklós Tóth ◽  
Péter Reismann
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intellectual Disability ◽  
Genetic Analysis ◽  
Ethnic Groups ◽  
Williams Syndrome ◽  
Social Behaviour ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Genetic Disorder

Abstract: Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients’ lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883–1888.

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 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.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency

2021 ◽  
Vol 14 (3) ◽  
pp. e240288
Author(s):  
Gabriela F Santos ◽  
Paul Ellis ◽  
Daniela Farrugia ◽  
Alice M Turner
Keyword(s):  
Nephrotic Syndrome ◽  
Membranous Nephropathy ◽  
Clinical Investigation ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Protective Role ◽  
Caucasian Woman ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, with early-onset emphysema. Nephropathy due to AATD is still very rare and only a few cohort studies have been reported. It has been recognised that alpha-1 antitrypsin has a protective role in the kidneys which enhances the possibility of development of kidney failure, such as nephrotic syndrome, in cases of AATD. Further clinical investigation is needed to understand the relationship between the development of nephropathy, namely membranous nephropathy, and AATD.

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