Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 4q deletion syndrome, comprising all microscopically visible deletions (interstitial and terminal) is a well-recognized distinctive malformation entity, with an estimated incidence of 1:10,000. Here we present the clinical and molecular findings in a 3-year-old male with a de novo distal deletion of 4q33 [46,XY,del(4) (q33)]. Clinical findings of the patient include: hypertelorism, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip, micro-retrognathia, low-set and protruding ears, pre-auricular tag unilaterally, low posterior hairline, clinodactyly of the 5th fingers, tapering fingers, hypospadias, and severe psychomotor retardation. Soon after birth he developed severe hypotonia and feeding difficulties. Echocardiography at 15 months documented aortic supravalvular membrane resulting in mild aortic stenosis and dysplasia of the pulmonary valve. Genome-wide screening using 1 Mb resolution array-CGH and subsequent FISH analyses defined a 18.9-22.9 Mb deletion located at the beginning of 4q33 and extending to the telomere. The description of additional cases with similar distal deletions of 4q33 will allow a more precise prognosis and is therefore of great value for genetic counsellors, while detailed molecular characterization in any well clinically characterized patient is expected to track down individual candidate genes for the specific features of the syndrome.
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PMID:Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH. 1799 73

The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is elastin (ELN), implicated as the cause of supravalvar aortic stenosis in patients with Williams-Beuren syndrome. Here we present a series of eight pediatric patients and one adult with 7q11.23 microduplication syndrome, all of whom had aortic dilation, the opposite vascular phenotype of the typical supravalvar aortic stenosis found in Williams-Beuren syndrome. The ascending aorta was most commonly involved, while dilation was less frequently identified at the aortic root and sinotubular junction. The findings in these patients support a recommendation for cardiovascular surveillance in patients with 7q11.23 microduplication syndrome.
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PMID:Aortopathy in the 7q11.23 microduplication syndrome. 2542 57

Transfemoral transcatheter aortic valve implantation (TAVI) is nowadays a routine therapy for elderly patients with severe aortic stenosis (AS) and high perioperative risk. With growing experience, further development of the devices, and the expansion to "intermediate-risk" patients, there is increasing interest in performing this procedure under conscious sedation (TAVI-S) rather than the previously favoured approach of general anesthesia (TAVI-GA). The proposed benefits of TAVI-S include; reduced procedure time, shorter intensive care unit (ICU) length of stay, reduced need for intraprocedural vasopressor support, and the potential to perform the procedure without the direct presence of an anesthetist for cost-saving reasons. To date, no randomized trial data exists. We reviewed 13 non-randomized studies/registries reporting data from 6,718 patients undergoing TAVI (3,227 performed under sedation). Patient selection, study methods, and endpoints have differed considerably between published studies. Reported rates of in-hospital and longer-term mortality are similar for both groups. Up to 17% of patients undergoing TAVI-S require conversion to general anesthesia during the procedure, primarily due to vascular complications, and urgent intubation is frequently associated with hemodynamic instability. Procedure related factors, including hypotension, may compound preexisting age-specific renal impairment and enhance the risk of acute kidney injury. Hypotonia of the hypopharyngeal muscles in elderly patients, intraprocedural hypercarbia, and certain anesthetic drugs, may increase the aspiration risk in sedated patients. General anesthesia and conscious sedation have both been used successfully to treat patients with severe AS undergoing TAVI with similar reported short and long-term mortality outcomes. The authors believe that the significant incidence of complications and unplanned conversion to general anesthesia during TAVI-S mandates the start-to-finish presence of an experienced cardiac anesthetist in order to optimize patient outcomes. Good quality randomized data is needed to determine the optimal anesthetic regimen for patients undergoing TAVI.
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PMID:Sedation or general anesthesia for transcatheter aortic valve implantation (TAVI). 2654 97

We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams-Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation.
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PMID:The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature. 2761 54