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1

Genetics and Hearing Loss: A Review of Stickler Syndrome.  

ERIC Educational Resources Information Center

Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and speech-language pathologists should be familiar with the characteristics associated with Stickler

Nowak, Catherine Bearce

1998-01-01

2

Adult presentation of Stickler syndrome type III  

Microsoft Academic Search

Few clinical cases have been published on Stickler syndrome type III, and all describe the pediatric presentation. We describe\\u000a an adult presentation of the syndrome in a 67-year-old woman and provide a report on the clinical and radiographic features\\u000a supporting diagnosis. A chart review and updated investigations were performed to elucidate the presenting history and disease\\u000a progression in the patient.

Kayi Li; Carter Thorne

2010-01-01

3

Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts  

Microsoft Academic Search

Background  Stickler syndrome is a hereditary oculo-systemic disorder where patients are predisposed to retinal detachments which are\\u000a often complex and challenging to manage. Significant progress has been made regarding the molecular genetics of the condition;\\u000a however, there is little recent literature on surgery for retinal detachment in Stickler syndrome. Our aim is to describe\\u000a a population of Stickler patients presenting to

Poorna Abeysiri; Catey Bunce; Lyndon da Cruz

2007-01-01

4

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome  

PubMed Central

Purpose Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and OSS as a symptom complex rather than a diagnosis. Methods Detailed clinical and radiographic examinations were undertaken with emphasis on the role of MRI imaging. Magnetic resonance imaging may allow early prediction of articular lesion healing potential in patients with Stickler syndrome. Results The phenotype of Stickler syndrome can be diverse and therefore misleading. The expectation that the full clinical criteria of any given genetic disorder such as Stickler syndrome will always be present can easily lead to an underestimation of these serious inheritable disorders. We report here two family subjects, a male proband and his aunt (paternal sister), both presented with the major features of Stickler syndrome. Tall stature with marfanoid habitus, astigmatism/congenital vitreous abnormality and submucus cleft palate/cleft uvula, and enlarged painful joints with early onset osteoarthritis. Osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) were the predominating joint abnormalities. Conclusion We observed that the nature of the articular and physeal abnormalities was consistent with a localised manifestation of a more generalised epiphyseal dysplasia affecting the weight-bearing joints. In these two patients, OCD and OSS appeared to be the predominant pathologic musculoskeletal consequences of an underlying Stickler's syndrome. It is empirical to consider generalised epiphyseal dysplasia as a major underlying causation that might drastically affect the weight-bearing joints. PMID:19193224

Al Kaissi, Ali; Klaushofer, Klaus; Grill, Franz

2009-01-01

5

Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I  

PubMed Central

Objective: To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized. Methods: From a series of Stickler syndrome patients followed from early life to late childhood. Ten patients (6 boys and four girls of different ethnic origins were consistent with the diagnosis of Stickler syndrome type I ). Phenotypic characterization was the baseline tool applied for all patients and genotypic correlation was performed on four families Results: A constellation of axial abnormalities namely; anterolateral ossification of the anterior longitudinal spinal ligament with subsequent fusion of two cervical vertebrae, early onset Forestier disease (progressive spinal hyperostosis with subsequent vertebral fusion on top of bridging osteophytes and “Bamboo-like spine” resembling ankylosing spondylitis) and severe premature spine degeneration were evident. Appendicular abnormalities in connection with generalized epiphyseal dysplasia were the underlying aetiology in patients with Intoeing gait and femoral anteversion, early onset severe osteoarthritis of the weight bearing joint. Remarkable trochleo-patellar dysplasia secondary to severe osteoarthritis causing effectively the development of patellar instability was additional pathology. Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I Conclusion: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities. We were able to modify the criteria of the clinical phenotype as designated by Rose et al in accordance with the novel axial and appendicular criteria as emerged from within our current study. PMID:23935403

Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Kenis, Vladimir; Zandieh, Shahin; Hofstaetter, Jochen G; Klaushofer, Klaus; Grill, Franz

2013-01-01

6

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.  

PubMed

We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright hereditary osteodystrophy which was inherited from her mother and type 1 Stickler syndrome which was a new mutation. The combination of manifestations from the two syndromes had resulted in initial diagnostic confusion. Diagnosis of the latter syndrome was made only following ophthalmic examination which documented the presence of a membranous vitreous anomaly characteristic of type 1 Stickler syndrome. Subsequent confirmation was achieved by mutation analysis of the COL2A1 gene. The propositus in case 2 inherited Treacher Collins syndrome paternally and type 2 Stickler syndrome maternally. The overlap of facial anomalies may have resulted in a more severe phenotype for the patient. The diagnosis of Stickler syndrome in the propositus was confirmed initially by vitreous assessment and later by demonstration of mutation in the COL11A1 gene. These two patients highlight the key role of vitreous examination and vitreoretinal phenotyping in the differential diagnosis of Stickler syndrome and its subtypes in cases where the clinical picture is complicated by double heterozygosity. PMID:17318849

Ang, Alan; Ung, Tsiang; Puvanachandra, Narman; Wilson, Louise; Howard, Frances; Ryalls, Michael; Richards, Allan; Meredith, Sarah; Laidlaw, Maureen; Poulson, Arabella; Scott, John; Snead, Martin

2007-03-15

7

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.  

PubMed

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: ?1, ?2, and ?3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. PMID:24273071

Faletra, Flavio; D'Adamo, Adamo P; Bruno, Irene; Athanasakis, Emmanouil; Biskup, Saskia; Esposito, Laura; Gasparini, Paolo

2014-01-01

8

Genes and Syndromic Hearing Loss.  

ERIC Educational Resources Information Center

This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

Keats, Bronya J. B.

2002-01-01

9

Marshall syndrome associated with a splicing defect at the COL11A1 locus.  

PubMed Central

Marshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically similar to the more common disorder Stickler syndrome. For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. The G+1-->A transition causes in-frame skipping of a 54-bp exon and deletes amino acids 726-743 from the major triple-helical domain of the alpha1(XI) collagen polypeptide. The data support the hypothesis that the alpha1(XI) collagen polypeptide has an important role in skeletal morphogenesis that extends beyond its contribution to structural integrity of the cartilage extracellular matrix. Our results also demonstrate allelism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutations. PMID:9529347

Griffith, A J; Sprunger, L K; Sirko-Osadsa, D A; Tiller, G E; Meisler, M H; Warman, M L

1998-01-01

10

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.  

PubMed

Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the pro?1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. In this study, we describe the clinical presentations of seven patients with Marshall syndrome from three unrelated Saudi families, inherited as autosomal dominant (two families) and autosomal recessive (one family). Cardinal clinical features of Marshall syndrome are manifested in all patients. One patient had ectodermal abnormalities. Mutations (c.2702G > A in exon 34,IVS50 + 1G > A, and IVS50 + lG > C) were identified in COL11A1 in affected members. Interestingly, the first report of autosomal recessive Marshall syndrome was from Saudi Arabia caused by the same mutation (c.2702G > A, p.Gly901Glu) as in one of our families. This study depicts detailed phenotypic and genetic description of dominant and recessive forms of Marshall syndrome due to COL11A1 mutations. PMID:25073711

Khalifa, O; Imtiaz, F; Ramzan, K; Allam, R; Hemidan, A Al-; Faqeih, E; Abuharb, G; Balobaid, A; Sakati, N; Owain, M Al-

2014-10-01

11

Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome  

PubMed Central

Objective To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts. It has significant phenotypic overlap with allelic Jansen syndrome and ocular Stickler syndrome type 1. Sticker syndrome type 1 maps to chromosome 12q13.11-q13.2, with associated COL2A1 gene mutations. Wagner syndrome maps to chromosome 5q13-q14 and is associated with mutations in CSPG2 encoding versican, a proteoglycan present in human vitreous. Methods Genomic DNA samples derived from venous blood were collected from all family members. Complete sequencing of COL2A1 was performed on a proband. Primers for polymerase chain reaction and sequencing were designed to cover all exon and intronexon boundaries. Direct sequencing of CSPG2 was performed on all family member samples. Results No detectable COL2A1 mutations were noted, making the diagnosis of ocular Stickler syndrome highly unlikely for this family. A unique base pair substitution (c.9265+1G>T) in intron 8 of the CSPG2 gene cosegregating with disease status was identified. This mutation occurred in a highly conserved previously reported splice site with a similar base pair substitution(G>A). Direct sequencing of this splice site mutation in 107 unrelated external controls revealed no variants, supporting the rarity of this base pair change and its causation in Wagner syndrome. This novel base pair substitution is thought to cause the deletion of exon 8 and formation of a truncated protein product. Conclusion Mutation screening of CSPG2 in autosomal dominant vitreoretinopathy families is important for accurate diagnosis. Clinical Relevance This study underscores the importance of obtaining extensive pedigree information and comparative ophthalmologic clinical information, as the phenotypic findings may vary greatly among independent family members. The study also affirms the paradigm shift from diagnosis assignment based on eponyms to that based on gene mutation type. PMID:19901218

Ronan, Shawn M.; Tran-Viet, Khanh-Nhat; Burner, Erica L.; Metlapally, Ravikanth; Toth, Cynthia A.; Young, Terri L.

2012-01-01

12

Rare syndromes of the head and face-Pierre Robin sequence.  

PubMed

Pierre Robin sequence (PRS) is an association of clinical features consisting of mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to obstructive apnea and feeding difficulties. PRS can occur as an isolated condition or can be found in association with a range of other features in a number of conditions including Treacher collins and Stickler syndromes. The frequent association of the PRS triad suggests a common underlying developmental mechanism which impacts on each of these tissues. Isolated PRS is typically sporadic but when familial usually exhibits autosomal dominant inheritance. The term PRS is applied on the basis of the pattern of malformation rather than etiology and growing evidence indicates that the initiating genetic lesion is variable. Various chromosomal anomalies have been associated with PRS including loci on chromosomes 2, 4, and 17. Associations with genes including SOX9, a number of collagen genes and work with animal models suggest the phenotype derives from a cartilage defect during early facial growth. However, alternative theories have been proposed and these highlight the difficulty of characterising congenital anomalies of craniofacial development in which multiple etiologies can result in very similar phenotypes. PMID:23799581

Tan, Tiong Yang; Farlie, Peter G

2013-01-01

13

Tourette Syndrome  

MedlinePLUS

NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

14

Fanconi syndrome  

MedlinePLUS

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

15

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

16

Down Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications En Espańol Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

17

Dravet Syndrome  

MedlinePLUS

NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

18

Piriformis Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder ...

19

Goldenhar's syndrome.  

PubMed

We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate. PMID:626178

Feingold, M; Baum, J

1978-02-01

20

Tourette Syndrome  

MedlinePLUS

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

21

Klinefelter syndrome  

MedlinePLUS

47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

22

Sjogren's Syndrome  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations Additional resources from MedlinePlus What is Sjögren's Syndrome? Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce ...

23

Paraneoplastic Syndromes  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations What are Paraneoplastic Syndromes? Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as ...

24

Sjögren's Syndrome  

MedlinePLUS

... syndrome sometimes develops as a complication of another autoimmune disorder. Symptoms vary in type and intensity, but many ... syndrome is not known, but it is an autoimmune disorder. People with this disease have abnormal proteins in ...

25

Asperger Syndrome  

MedlinePLUS

... and symptoms of Asperger syndrome is given the diagnosis of Autism Spectrum Disorder (ASD). If a person was diagnosed with Asperger syndrome before May 2013, his or her diagnosis stays the same, but can be considered ASD ...

26

Asperger Syndrome  

MedlinePLUS

... is Asperger syndrome? Asperger syndrome (AS) is an autism spectrum disorder (ASD), one of a distinct group ... and stereotyped patterns of behavior. Other ASDs include autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not ...

27

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

2009-01-01

28

Metabolic Syndrome  

MedlinePLUS

... metabolic syndrome fact sheet hOW is the metAbOlic syndrOme treAted? Increasing physical activity and losing weight are the best ways to begin to manage your condition. Medications can also treat risk factors such as ... factors for the metabolic syndrome, talk with your doctor. Your doctor can run ...

29

Aase syndrome  

MedlinePLUS

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

30

Down syndrome  

MedlinePLUS

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

31

Serotonin Syndrome  

PubMed Central

Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David

2013-01-01

32

Down's syndrome.  

PubMed

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world. PMID:12699967

Roizen, Nancy J; Patterson, David

2003-04-12

33

Aicardi syndrome.  

PubMed

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome. PMID:22815034

Singh, Paramdeep; Goraya, Jatinder Singh; Saggar, Kavita; Ahluwalia, Archana

2012-07-01

34

[Kounis syndrome].  

PubMed

Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226

Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M

2012-01-01

35

Wolf syndrome  

Microsoft Academic Search

Since the initial description in 1965 of Wolf syndrome, or deletion of the short arm of chromosome number four, over one hundred cases have been reported. Much less, however, has been published on the radiologic findings in this disorder. We report a case with both typical and unusual features of the 4p- syndrome, including “bottle opener” deformity of the clavicles,

D. S. Katz; T. H. Smith

1991-01-01

36

Joubert Syndrome  

MedlinePLUS

... our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. ...

37

Barth syndrome  

Microsoft Academic Search

Key words Disease name and synonyms Definition\\/diagnostic criteria Epidemiology Abstract Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. The disease can be slowly progressive or sudden. In most cases, Barth syndrome

Pascale de Lonlay; Dimitri Schlemmer; Paola Melacini

38

Stroke Syndromes  

Microsoft Academic Search

We gave a short overview of the most important stroke syndromes in the clinical setting. Knowledge of these syndromes helps\\u000a to understand the complex pathophysiology of cerebral ischemia. Combination of clinical findings with the data from the new\\u000a and evolving imaging techniques certainly facilitates and improves care for stroke patients.

Georg Gahn

39

Pfeiffer syndrome  

Microsoft Academic Search

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1

Annick Vogels; Jean-Pierre Fryns

2006-01-01

40

Bazex Syndrome*  

PubMed Central

Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922

Rodrigues Junior, Ismael Alves; Gresta, Leticia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintao

2013-01-01

41

Hepatorenal Syndrome  

Microsoft Academic Search

Hepatorenal syndrome (HRS) is a serious event during the course of decompensated cirrhosis. Although the most characteristic feature of the syndrome is a functional renal failure due to intense renal vasoconstriction, it is a more generalized process affecting the heart, brain and splanchnic organs. There are two types of HRS. Type 1 HRS is characterized by a rapidly progressive impairment

Mónica Guevara; Pere Ginčs

2005-01-01

42

KBG syndrome  

Microsoft Academic Search

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and

Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola

2006-01-01

43

Marfan Syndrome  

MedlinePLUS

... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

44

Poland syndrome  

PubMed Central

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

2014-01-01

45

Neuroacanthocytosis Syndromes  

PubMed Central

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. PMID:22027213

2011-01-01

46

Hemihyperplasia syndromes  

Microsoft Academic Search

Obective  Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion\\u000a regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia\\u000a syndromes.\\u000a \\u000a \\u000a \\u000a Methods  Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available\\u000a literature and diagnostic criteria.\\u000a \\u000a \\u000a \\u000a Results  Of the 17

Ashwin B. Dalal; Shubha R. Phadke; Mandakini Pradhan; Sheetal Sharda

2006-01-01

47

CLOVES syndrome.  

PubMed

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. PMID:24161472

Bloom, Jacob; Upton, Joseph

2013-12-01

48

Cushing Syndrome  

PubMed Central

A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor. PMID:6992458

Cook, David M.; Kendall, John W.; Jordan, Richard

1980-01-01

49

[Autoinflammatory syndromes/fever syndromes].  

PubMed

Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

2011-05-01

50

Serotonin syndrome  

MedlinePLUS

... medicine). Drugs of abuse, such as ecstasy and LSD have also been associated with serotonin syndrome. ... Always tell all of your healthcare providers what medicines you take. ... especially right after starting a medicine or increasing ...

51

Caplan syndrome  

MedlinePLUS

... who have been exposed to mining dust containing coal. The lung disease is called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... small lung lumps (nodules) and mild asthma-like airway disease. ...

52

Bloom's Syndrome  

MedlinePLUS

... a high incidence of breaks in an individual’s chromosomes. The most serious manifestations of this condition are ... the symptoms of this disorder may recommend specialized chromosome testing or testing of the Bloom’s syndrome gene. ...

53

Down Syndrome  

MedlinePLUS

... the key to healthier, happier, more independent lives. Chromosomes Are the Cause To understand why Down syndrome happens, you need to understand a little about chromosomes. What are chromosomes? They're thread-like structures ...

54

Hunter syndrome  

MedlinePLUS

Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

55

Aicardi Syndrome  

MedlinePLUS

... encephalopathy that affects newborn infants. ) Is there any treatment? There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and ...

56

Apert syndrome  

MedlinePLUS

... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

57

Levator Syndrome  

MedlinePLUS

... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse Merck ... exclude other painful rectal conditions (such as thrombosed hemorrhoids, fissures, or abscesses). The physical examination is often ...

58

Ohtahara Syndrome  

MedlinePLUS

... Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first ... first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also ...

59

HELLP syndrome  

MedlinePLUS

... in 10-20% of pregnant women with severe preeclampsia or eclampsia . Most often HELLP develops before the ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

60

Williams Syndrome  

MedlinePLUS

... cognitive, personality, and neurological characteristics of WS. NIH Patient Recruitment for Williams Syndrome Clinical Trials At NIH ... on the treatment or care of an individual patient should be obtained through consultation with a physician ...

61

Marfan syndrome.  

PubMed

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

Jain, Eesha; Pandey, Ramesh Kumar

2013-01-01

62

Isaac's Syndrome  

MedlinePLUS

... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

63

Paraneoplastic Syndromes  

PubMed Central

Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

Stolinsky, David C.

1980-01-01

64

Asperger Syndrome  

MedlinePLUS

... AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group ... of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental ...

65

Sheehan syndrome  

MedlinePLUS

... occur in a woman who bleeds severely during childbirth. Sheehan syndrome is a type of hypopituitarism . ... Severe bleeding during childbirth can result in tissue death in the pituitary gland. This causes the gland to lose its ability to work ...

66

Down Syndrome  

MedlinePLUS

... help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

67

CHARGE syndrome  

Microsoft Academic Search

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies\\/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and

Kim D Blake; Chitra Prasad

2006-01-01

68

[Kabuki syndrome].  

PubMed

Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

Stankovics, J

1995-08-20

69

Metabolic Syndrome  

Microsoft Academic Search

“Metabolic syndrome” refers to the phenomenon of risk factor clustering and is presumed to reflect a unifying underlying pathophysiology.\\u000a Clustering commonly occurs in the setting of obesity, insulin resistance and a sedentary lifestyle. Currently there are five\\u000a different criteria for metabolic syndrome, all of which are associated with increased risk of diabetes or cardiovascular disease.\\u000a Therapeutic lifestyle change that focuses

James B. Meigs

70

Jacobsen syndrome  

Microsoft Academic Search

Jacobsen syndrome is a MCA\\/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1\\/100,000 births, with a female\\/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities,

Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld

2009-01-01

71

Central Pain Syndrome  

MedlinePLUS

NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

72

Down Syndrome (For Parents)  

MedlinePLUS

About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

73

Angelman Syndrome Foundation  

MedlinePLUS

... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment 50% of individuals with Angelman syndrome are originally ... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment Angelman Syndrome Foundation, Inc. (800-432-6435) 75 ...

74

Why Metabolic Syndrome Matters  

MedlinePLUS

Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

75

Pfeiffer syndrome.  

PubMed

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia. PMID:16740155

Vogels, Annick; Fryns, Jean-Pierre

2006-01-01

76

Cowden syndrome.  

PubMed

Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with ?80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. PMID:20580873

Farooq, A; Walker, L J; Bowling, J; Audisio, R A

2010-12-01

77

Compartment syndromes  

NASA Technical Reports Server (NTRS)

The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

1989-01-01

78

Neurocutaneous Syndromes  

Microsoft Academic Search

\\u000a Synonym. Also known as phakomatoses, a term derived from the Greek root phakos (birthmark) pointing out the common, visible dermatologic\\u000a manifestations characteristic of these syndromes.\\u000a \\u000a \\u000a Definition. The neurocutaneous syndromes consist of several heterogeneous disorders, grouped together because of their common manifestation\\u000a with neurologic, cutaneous and ocular signs. Disorders classified in this group of pathologies include neurofibromatosis (types\\u000a 1 and 2),

Gianpiero Tamburrini; Concezio Di Rocco

79

Morbihan syndrome  

PubMed Central

We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

2013-01-01

80

[SAPHO syndrome].  

PubMed

The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

2014-10-01

81

Turcot Syndrome  

MedlinePLUS

... of colorectal cancer , and an increased risk of brain cancer . The type of brain cancer generally depends on whether the Turcot syndrome is ... or FAP , with the addition of screening for brain cancer . See those conditions’ sections for a summary of ...

82

Patellofemoral syndrome  

Microsoft Academic Search

This paper examines the condition of anterior knee pain known as patellofemoral pain syndrome. It describes the functional anatomy and biomechanics of the knee including normal movement, and factors which may destabilize the knee, and predispose it to injury. The controversial “Q” angle is discussed, as is its relationship to patellofemoral pain. The importance of balanced musculature to the integrity

S. T. Green

2005-01-01

83

Bloom syndrome.  

PubMed

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044

Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

2014-07-01

84

Sensory syndromes.  

PubMed

Somatosensory deficit syndromes represent a common impairment following stroke and have a prevalence rate of around 80% in stroke survivors. These deficits restrict the ability of survivors to explore and manipulate their environment and are generally associated with a negative impact on quality of life and personal safety. Sensory impairments affect different sensory modalities in diverse locations at varying degrees, ranging from complete hemianesthesia of multiple modalities to dissociated impairment of somatosensory submodalities within a particular region of the body. Sensory impairments induce typical syndromal patterns which can be differentiated by means of a careful neurological examination, allowing the investigator to deduce location and size of the underlying stroke. In particular, a stroke located in the brainstem, thalamus, and the corticoparietal cortex result in well-differentiable sensory syndromes. Sensory function following stroke can be regained during rehabilitation even without specific sensory training. However, there is emerging evidence that specialized sensory interventions can result in improvement of somatosensory and motor function. Herein, we summarize the clinical presentations, examination, differential diagnoses, and therapy of sensory syndromes in stroke. PMID:22377851

Klingner, Carsten M; Witte, Otto W; Günther, Albrecht

2012-01-01

85

Aicardi syndrome  

Microsoft Academic Search

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a

Jean Aicardi

2005-01-01

86

Poland syndrome.  

PubMed

Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. The chest wall defect is often associated with a lung hernia. Clinical manifestations are extremely variable and rarely are all the features recognized in 1 individual. Fortunately it is invariably unilateral, allowing for an easier reconstruction. Single-stage reconstruction of the chest wall combined with simultaneous augmentation mammoplasty and transfer of an island pedicle myocutaneous flap of latissimus dorsi muscle are major improvements over previous multiple-stage procedures that provide less satisfactory cosmetic results in management of patients with Poland syndrome. PMID:19632568

Urschel, Harold C

2009-01-01

87

Fibromyalgia syndrome.  

PubMed

Fibromyalgia syndrome (FMS) is a more common a condition than previously estimated. The most recent estimates are that 3 to 6 million patients have been diagnosed with FMS. The ACR criteria, established in 1990, provide the primary care provider with definitive subjective and objective findings that have shown to be 88% accurate in their ability to diagnose patients with the syndrome. There is no cure for FMS. It is a chronic condition, but patients quality of life can be improved when fatigue and pain are reduced. The institution of a plan that is developed collaboratively by the patient and the provider is the essence of successful symptom management. The hallmarks of the management plan include: improving the quality of sleep through the judicious use of medications that boost the body's level of serotonin (therefore reducing fatigue), and reducing pain through complimentary modalities such as exercise, physical therapy, relaxation techniques, massage, and biofeedback. PMID:9769357

Smith, W A

1998-12-01

88

Marfan's syndrome  

PubMed Central

Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700

Judge, Daniel P; Dietz, Harry C

2006-01-01

89

[Autoinflammatory syndromes].  

PubMed

Autoinflammatory syndromes are characterised by recurrent or persistent inflammation with no increase in the antibody titers or antigen-specific T lymphocytes, and absence of infection. Initially, they included the hereditary periodic fever syndromes, a group of innate immune system monogenic diseases characterised by recurrent febrile episodes, with different characteristics, duration and interval, accompanied by other symptoms. Secondary amyloidosis is a complication in this group. The advances in the last few years has led to the identification of susceptible genes, new proteins, and characterising mechanisms and pathogenic routes that have led to an improvement in the diagnosis and establishing more effective treatments. Among these routes, are the changes in the inflammasome components, a group of cytoplasmic proteins that regulate the production of several inflammatory response mediators. The initial group of monogenic autoinflammatory diseases have increased in the last few years, due to including several polygenic hereditary diseases. PMID:21596180

Antón, Jordi

2011-01-01

90

Fluency Disorders in Genetic Syndromes  

ERIC Educational Resources Information Center

The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

Van Borsel, John; Tetnowski, John A.

2007-01-01

91

Hepatorenal Syndrome  

PubMed Central

Hepatorenal syndrome (HRS) is a serious complication of liver cirrhosis with critically poor prognosis. The pathophysiological hallmark is severe renal vasoconstriction, resulting from complex changes in splanchnic and general circulations as well as systemic and renal vasoconstrictors and vasodilators. Rapid diagnosis and management are important, since recent treatment modalities including vasoconstrictor therapy can improve short-term outcome and buy time for liver transplantation, which can result in complete recovery. PMID:17603637

Ng, Charles KF; Chan, Michael HM; Tai, Morris HL; Lam, Christopher WK

2007-01-01

92

Metabolic syndrome  

Microsoft Academic Search

The metabolic syndrome is like an elephant, and any literary review of its importance is shamefully reduced to an examination\\u000a of tusks, trunk, and tail. Evidence continues to mount that this diminutive approach is an incorrect management strategy for\\u000a such a large problem. Diet and lifestyle are effective strategies, but they must effectively compete with behaviors that have\\u000a instant gratification.

Margo A. Denke

2002-01-01

93

[Sjögren's syndrome].  

PubMed

This paper consists the theorical review and the current concepts of the subject and the second includes the casuistry of the Stomatology Department of the Pulido Valente Hospital. From April 1989 to 1991 (2 years), a study was made on Sjögren Syndrome (Primary and Secondary) of multiple character with the particular co-operation of the Portuguese Institute of Rheumatology. With this paper we wish to point out the importance of the oral evaluation of the study of the plurisystemic diseases as well as to establish criterions of diagnosis for the Portuguese population. Eighty cases of suspected Sjögren's Syndrome have been assessed, 66 of which have been fully. The reason for the consultation was dry mouth, dry eyes and enlargement of parotid glands. The symptoms were isolated or in association with other pathologies after other causes had been excluded. We had to establish the salivary reference values for the Portuguese population in 22 healthy volunteers. The xerostomia was evaluated by the Sialochemistry, Sialography, Cintigraphy and biopsies of the lower lip and of the sublingual gland. The ophthalmologic examination took place in the Ophthalmology Department of Santo António dos Capuchos Hospital by means of Shirmer test, Rosa Bengala and B.U.T. In spite of Sjögren's Syndrome being, up to now, so remotely determined in connection with the treatment, these patients need medical care and Stomatology plays a fundamental role as far as the diagnosis and the therapeutic points of view are concerned. We maintain the notion that the Syndrome is not as infrequent as one would believe and the evaluation of the oral field is important to establish the degree of the disease and its treatment. PMID:7856465

Brito, A; Figueirinhas, J; Ramos, M; Soares, A L; Neves, L R; Lobo, J; Faro, L S

1994-10-01

94

Masquerade Syndromes  

Microsoft Academic Search

The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

Shouvik Saha; Elizabeth M. Graham

95

Parkinsonian syndromes  

Microsoft Academic Search

\\u000a A variety of conditions may cause parkinsonian syndromes independent of the idiopathic loss of substantia nigra neurons and\\u000a deafferentation of the striatum; these include degenerative conditions, infections, drugs, toxins and structural lesions (Figure\\u000a 2.1). The clinical pictures of these degenerative conditions overlap but are usually recognized by the presence of subtle\\u000a “red flags” in the earlier stage of the illness.

K Ray Chaudhuri; Prashanth Reddy

96

Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo

97

Nutcracker syndrome.  

PubMed

The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient's age and the stage of the syndrome. PMID:25374822

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-11-01

98

Noonan Syndrome  

PubMed Central

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available. PMID:24444506

BHAMBHANI, VIKAS; MUENKE, MAXIMILIAN

2014-01-01

99

Acrodysostosis syndromes  

PubMed Central

Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gs?, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gs?–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

2012-01-01

100

Nutcracker syndrome  

PubMed Central

The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-01-01

101

Trousseau's syndrome.  

PubMed Central

We report 4 cases of Trousseau's syndrome, in which spontaneous recurrent or migratory venous thromboses, arterial emboli caused by nonbacterial thrombotic endocarditis, or both, develop in a patient with a recognized or occult malignant tumor. The clinical course of 3 of the patients emphasizes a key point: The occurrence for no known reason of thromboses preventable by anticoagulation therapy with heparin but not with warfarin sodium should alert a physician to focus diagnostic efforts on uncovering an underlying malignant lesion. Thromboses may occur months to years before the tumor is discovered, and a thorough negative initial examination does not obviate the need for a continuing search. Patients with Trousseau's syndrome have persistent low-grade intravascular coagulation, and therapy with heparin should be continued indefinitely. Stopping heparin therapy for even a day may permit a new thrombosis to develop. Immunostaining a biopsy specimen from 1 patient provided evidence that 2 properties of a neoplastic lesion are required for the syndrome to develop: The malignant cells express surface membrane tissue factor, and structural features of the tumor permit the malignant cells or vesicles it sheds to be exposed to circulating blood. Images PMID:8317122

Callander, N; Rapaport, S I

1993-01-01

102

Syndrome E.  

PubMed

The transformation of groups of previously nonviolent individuals into repetitive killers of defenceless members of society has been a recurring phenomenon throughout history. This transformation is characterised by a set of symptoms and signs suggesting a common syndrome--Syndrome E. Affected individuals show obsessive ideation, compulsive repetition, rapid desensitisation to violence, diminished affective reactivity, hyperarousal, environmental dependency, group contagion, and failure to adapt to changing stimulus-reinforcement associations. Yet memory, language, planning, and problem-solving skills remain intact. The main risk factors are male sex and age between 15 and 50. A pathophysiological model--"cognitive fracture"--is hypothesised, where hyperaroused orbitofrontal and medial prefrontal cortices tonically inhibit the amygdala and are no longer regulated by visceral and somatic homoeostatic controls ordinarily supplied by subcortical systems. It is proposed that the syndrome is a product of neocortical development rather than the manifestation of a disinhibited primitive brain. Early recognition of symptoms and signs could lead to prevention through education and isolation of affected individuals. PMID:9428268

Fried, I

103

Roberts syndrome  

PubMed Central

All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. PMID:25054091

Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L

2014-01-01

104

Tourette Syndrome (For Parents)  

MedlinePLUS

... help their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French ... people with TS. Back Continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a ...

105

Down Syndrome: Eye Problems  

MedlinePLUS

... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

106

4H Syndrome  

MedlinePLUS

... 4H syndrome is a genetic disorder. Its genetic basis is however still not known. How is 4H syndrome diagnosed? 4H syndrome is diagnosed on the basis of the clinical symptoms, especially ataxia and delayed ...

107

Learning about Down Syndrome  

MedlinePLUS

... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome. MUMS ...

108

Tics and Tourette Syndrome  

MedlinePLUS

... of people who have Tourette syndrome have this symptom. What else should I know? Many children who have Tourette syndrome also have attention-deficit hyperactivity disorder (also called ADHD). Children who have Tourette syndrome ...

109

Heart and Down Syndrome  

MedlinePLUS

... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

110

Dental Issues & Down Syndrome  

MedlinePLUS

... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

111

Anesthesia & Down Syndrome  

MedlinePLUS

... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

112

Craniofacial Syndrome Descriptions  

MedlinePLUS

... with hemifacial microsomia. If both ears are affected Treacher Collins Syndrome may be involved. Moebius Syndrome is characterized by ... be fused. There may be a low hairline. Treacher Collins syndrome 13140 Coit Road • Suite 517 • Dallas, TX 75240 | ...

113

Hepatopulmonary syndrome.  

PubMed

The hepatopulmonary syndrome (HPS) is a pulmonary complication of cirrhosis and/or portal hypertension whereby patients develop hypoxemia as a result of alterations in pulmonary microvascular tone and architecture. HPS occurs in up to 30% of patients with cirrhosis. Although the degree of hypoxemia does not reliably correlate with the severity of liver disease, patients with HPS have a higher mortality than do patients with cirrhosis without the disorder. There has been progress into defining the mechanisms that lead to hypoxemia in HPS, but to date there are no therapeutic options for HPS aside from liver transplantation. PMID:24679503

Koch, David G; Fallon, Michael B

2014-05-01

114

Jacobsen syndrome  

PubMed Central

Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

2009-01-01

115

Behçet's syndrome.  

PubMed

Behçet's syndrome (BS) shows a peculiar distribution, with a much higher prevalence in countries along the ancient Silk Road compared with rest of the world. BS also seems to follow a more severe course in ethnic groups with higher prevalence. Diagnosis depends on clinical findings. Criteria sets may not help in patients with less frequent types of involvement. Management strategies should be modified according to the age and sex of the patient and the organs involved. Being a serious health problem in endemic areas, BS also attracts global attention as a model to study inflammatory diseases of unknown cause. PMID:23597962

Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan

2013-05-01

116

Parkinsonian Syndromes  

PubMed Central

Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

Williams, David R.; Litvan, Irene

2013-01-01

117

Turner Syndrome  

PubMed Central

Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

Kesler, SR

2007-01-01

118

Dandy-Walker Syndrome  

MedlinePLUS

NINDS Dandy-Walker Syndrome Information Page Table of Contents (click to jump to sections) What is Dandy-Walker Syndrome? Is there ... being done? Clinical Trials Organizations What is Dandy-Walker Syndrome? Dandy-Walker Syndrome is a congenital brain ...

119

Post-Polio Syndrome  

MedlinePLUS

NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome Fact Sheet Table of Contents (click to jump ... Trials Organizations Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a ...

120

Acute Respiratory Distress Syndrome in Lemierre's Syndrome  

PubMed Central

Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

Hein, Paul N.; Soghikian, Maida V.; Bhangoo, Munveer S.

2014-01-01

121

Periodic Fever Syndromes  

Microsoft Academic Search

The periodic syndromes represent a heterogeneous group of disorders that can be very difficult for practicing physicians to\\u000a diagnosis and treat. This article presents an orderly approach to hyperimmunoglobulin D syndrome; tumor necrosis factor receptor-1\\u000a periodic syndrome; familial Mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome;\\u000a and cryopyrin-associated periodic syndromes by highlighting the disease presentation, diagnosis, pathogenesis,

Zachary Jacobs; Christina E. Ciaccio

2010-01-01

122

Myhre syndrome.  

PubMed

Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (LAPS) cases supports that LAPS and MS are a unique entity. The long-term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are de novo and changing in the majority of cases Ile500, located in the MH2 domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via TGF? target genes in patient fibroblasts. Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. PMID:24580733

Le Goff, C; Michot, C; Cormier-Daire, V

2014-06-01

123

[Marfan syndrome].  

PubMed

Marfan's syndrome is a monogenetic disease with an autosomal dominant transmission generally accompanied by type I fibrillin abnormality. This widely-distributed molecule participates in the structure of connective tissues so that any aberration may result in disease of many systems: skeletal morphology, dislocation of the lens, neurological or cutaneous signs and dilatation of the aorta predisposing to dissection, mitral valve prolapse being a common association. The diagnosis, clinical because of the size of the culprit gene and the multiplicity of the possible mutations, is sometimes difficult, and diagnostic criteria have been proposed. It is important to make the diagnosis because treatment is based on the restriction of violent exercise, betablocker therapy and regular echocardiographic monitoring of the ascending aorta, the region at highest risk of dilatation and dissection. A family enquiry is essential to make the diagnosis before the onset of complications in pauci-symptomatic patients (great intra-familial variability). Pregnancy poses special problems in these patients. PMID:14694784

Jondeau, G; Boileau, C; Chevallier, B; Delorme, G; Digne, F; Guiti, C; Milleron, O; de SaintJean, M; Le Parc, J M; Moura, B

2003-11-01

124

Noonan syndrome.  

PubMed

Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ?50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. PMID:21771153

Turner, Anne M

2014-10-01

125

Rett Syndrome  

PubMed Central

Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

Smeets, E.E.J.; Pelc, K.; Dan, B.

2012-01-01

126

Nodding syndrome.  

PubMed

An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

Dowell, Scott F; Sejvar, James J; Riek, Lul; Vandemaele, Katelijn A H; Lamunu, Margaret; Kuesel, Annette C; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B; Winkler, Andrea S; Mbonye, Anthony K

2013-01-01

127

Noonan syndrome  

PubMed Central

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

van der Burgt, Ineke

2007-01-01

128

Nevoid Basal Cell Carcinoma Syndrome  

MedlinePLUS

... Carcinoma Syndrome Request Permissions Download PDF Nevoid Basal Cell Carcinoma Syndrome This section has been reviewed and ... Editorial Board , 11/2013 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) ...

129

Gorlin-Goltz Syndrome  

PubMed Central

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

2012-01-01

130

Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.  

PubMed

We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination. The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes. PMID:8322826

White, C P; Waldron, M; Jan, J E; Carter, J E

1993-06-15

131

[Periodic fever syndrome/autoinflammatory syndrome].  

PubMed

Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

Kötter, I; Schedel, J; Kümmerle-Deschner, J B

2009-03-01

132

Turner's syndrome.  

PubMed

Turner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia. PMID:11529402

Guarneri, M P; Abusrewil, S A; Bernasconi, S; Bona, G; Cavallo, L; Cicognani, A; Di Battista, E; Salvatoni, A

2001-07-01

133

Barth syndrome.  

PubMed

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. PMID:23843353

Jefferies, John L

2013-08-01

134

Barth syndrome  

PubMed Central

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. © 2013 Wiley Periodicals, Inc. PMID:23843353

JEFFERIES, JOHN L

2013-01-01

135

Schimmelpenning syndrome.  

PubMed

Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions. PMID:24139367

Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Ventura, Filipa; Brito, Celeste

2013-10-01

136

Cri du chat syndrome  

MedlinePLUS

Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. ... Cri du chat syndrome is rare. It is caused by a missing piece of chromosome 5. Most cases are ...

137

Toxic Shock Syndrome  

MedlinePLUS

... about it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's ... period, you may have heard frightening stories about toxic shock syndrome (TSS), a serious illness originally linked ...

138

Cardiac Syndrome X  

MedlinePLUS

Related terms: angina, microvascular angina Cardiac syndrome X patients have the pain of angina , but they do not have coronary artery disease ( CAD ). So even though patients with cardiac syndrome X ...

139

Complex regional pain syndrome  

MedlinePLUS

Complex regional pain syndrome (CRPS) is a chronic pain condition that can affect any area of the ... Bailey A, Audette JF. Complex regional pain syndrome. In: Frontera ... of Physical Medicine and Rehabilitation. 2nd ed. Philadelphia, ...

140

What Causes Down Syndrome?  

MedlinePLUS

... Trials Resources and Publications En Espańol What causes Down syndrome? Skip sharing on social media links Share this: ... the embryo grows. Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

141

[Periodic fever syndromes].  

PubMed

Periodic fever syndromes comprise a group of disorders characterized by attacks of seemingly unprovoked inflammation. The genetic causes of five hereditary autoinflammatory syndromes have been identified in the last few years: familial Mediterranean fever, the cryopyrinopathies [Muckle-Wells, chronic infantile neurological, cutaneous, articular syndrome (CINCA) and familial autoinflammatory syndromes], TNF-receptor associated periodic syndrome, cyclic neutropenia syndrome and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The study of periodic fever syndromes has progressed from clinical characterization to genetic analysis and to the definition of the functional defects linking genes or domains to apoptotic proteins and signal transduction pathways. This new research opens the way for more specific treatment options with a further improvement in prognosis and outcome. PMID:17072571

Huemer, C; Huemer, M

2006-11-01

142

Lennox-Gastaut Syndrome  

MedlinePLUS

... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

143

Proteus Syndrome Foundation  

MedlinePLUS

... to Help Thank you for donating to the Proteus Syndrome Foundation. Learn More Medical Research Dr. Leslie Biesecker has discovered the cause of Proteus syndrome. See our FAQ section for more information. ...

144

Complex Regional Pain Syndrome  

MedlinePLUS

... Syndrome? Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, ... Institute of Neurological Disorders and Stroke (NINDS). NINDS Chronic Pain Information Page Chronic pain information page compiled by ...

145

Treacher-Collins syndrome  

MedlinePLUS

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher-Collins syndrome. The condition can be passed down through families ( ...

146

Cardiopulmonary Syndromes (PDQ®)  

Cancer.gov

Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.

147

Post-Polio Syndrome  

MedlinePLUS

... Where can I get more information? What is post-polio syndrome? Polio, or poliomyelitis, is an infectious ... 2012, down from more than 125 in 1988. Post-polio syndrome (PPS) is a condition that affects ...

148

Dubin-Johnson syndrome  

MedlinePLUS

Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

149

Riley-Day syndrome  

MedlinePLUS

Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

150

ADHD & Down Syndrome  

MedlinePLUS

... Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, ... traits. Does That Mean That Your Child Has ADHD? It may, but more often it means that ...

151

Autoimmune polyglandular syndromes  

Microsoft Academic Search

The autoimmune polyglandular syndromes—a group of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases—differ in their component diseases and in the immunologic features of their pathogenesis. One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of

Peter A. Gottlieb; Aaron W. Michels

2010-01-01

152

Fibromyalgia syndrome.  

PubMed

The fibromyalgia syndrome (FM) workshop at OMERACT 8 continued the work initiated in the first FM workshop at OMERACT 7 in 2004. The principal objectives were to work toward consensus on core domains for assessment in FM studies, evaluate the performance quality of outcome measures used in a review of recent trials in FM, and discuss the research agenda of the FM working group. An initiative to include the patient perspective on identification and prioritization of domains, consisting of focus groups and a patient Delphi exercise, was completed prior to OMERACT 8. Patient-identified domains were, for the most part, similar to those identified by clinician-investigators in terms of symptoms and relative importance. However, patients identified certain domains, such as stiffness, that were not included by physicians, and emphasized the importance of domains such as dyscognition and impaired motivation. Many of the principal domains agreed upon by the clinician-investigators, patients, and OMERACT participants, including pain, fatigue, sleep, mood, and global measures, have been used in clinical trials and performed well when viewed through the OMERACT filter. The research agenda items reviewed and approved for continued study included development of objective "biomarkers" in FM, development of a responder index for FM, and coordination with the WHO's International Classification of Functioning Disability and Health (ICF) Research Branch and the US National Institutes of Health's Patient Reported Outcome Measures Information System network (PROMIS) to develop improved measures of function, quality of life, and participation. The OMERACT process has provided a framework for identification of key domains to be assessed and a path toward validation and standardization of outcome measures for clinical trials in FM. PMID:17552068

Mease, Philip; Arnold, Lesley M; Bennett, Robert; Boonen, Annelies; Buskila, Dan; Carville, Serena; Chappell, Amy; Choy, Ernest; Clauw, Daniel; Dadabhoy, Dina; Gendreau, Michael; Goldenberg, Don; Littlejohn, Geoffrey; Martin, Susan; Perera, Philip; Russell, I Jon; Simon, Lee; Spaeth, Michael; Williams, David; Crofford, Leslie

2007-06-01

153

[Sézary's syndrome].  

PubMed

In Sézary's syndrome (SS), cutaneous manifestations are associated with an abnormal mononuclear cell in the blood. Clinically, the differential diagnosis with Mycosis fungoides is impossible. However, some of the symptoms are more in favor of SS, such as leonin face, palm and sole hyperkeratosis and changes in pigmentation. The diagnosis of SS rests upon the identification on ordinary blood smears of a lymphocytic cell, the size of which is variable and which exhibits a grooved, folded and lobulated nucleus. This cell is negative for both esterases and peroxydases. It is not a monocyte. Large cells have big nuclei with tetraploid DNA values, whereas small variants have near diploid values. Chromosome analysis may reveal near hypertetraploid, hyper or hypodiploid counts. Marker chromosomes have been seen which could be common to all types. However, many cases are known in which the karyotype was normal. In addition, there are cases in which chromosome analysis was impossible due to poor responses of the Sézary cells to PHA. As regards surface markers, there is general agreement that Sézary's cells are non-B lymphocytes. In some cases, the cells had both T markers (antigen and E-rosettes), whereas in others, only one (antigen) was expressed. In still other cases, the abnormal blood cell had neither B nor T markers. In at least one case, the cells had both B and T surface receptors. The diversity of the Sézary's cell would be explained by the immunologic pressure exerted upon skin lymphocytes by the epidermis due to a change in the antigenicity of this tissue in relation to ageing or to the presence of exogenous chemicals, or to physically induced mutations. Recent studies from this laboratory, using autoradiography after incorporation of tritiated thymidine, have shown labelled lymphocytes in the skin of three out of four cases of SS. These results suggest that cutaneous manifestations in SS, as well as in Mycosis fungoides, are comparable to a chronic Graft-Versus-Host reaction (GVH). PMID:241041

Pruniéras, M; Saglier, I; Grupper, C; Durepaire, R; Flandrin, G

1975-09-01

154

Neuroleptic Malignant Syndrome  

PubMed Central

The neuroleptic malignant syndrome (NMS) is a potentially fatal syndrome characterized by diffuse muscular rigidity, pyrexia, sweating, cardiovascular instability, and elevated serum creatinine phosphokinase. NMS occurs in 2% of all patients exposed to neuroleptics (antipsychotic drugs). A case of successfully treated NMS is presented, and the typical symptomatic presentation, etiology, pathogenesis, and treatment options of this syndrome are described. PMID:21253261

Reinish, Lawrence W.; Remick, Ronald A.

1988-01-01

155

Fragile X syndrome  

MedlinePLUS

Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

156

Large vestibular aqueduct syndrome.  

PubMed

Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients. PMID:16570713

Dipak, S; Prepageran, N; Sazila, A S; Rahmat, O; Raman, R

2005-10-01

157

Morbidity in Turner Syndrome  

Microsoft Academic Search

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome.

Claus Hřjbjerg Gravholt; Svend Juul; Rune Weis Naeraa; Jan Hansen

1998-01-01

158

Treacher Collins Syndrome  

MedlinePLUS

... version of this factsheet, click here What is Treacher Collins Syndrome? Treacher Collins syndrome is the name given to a birth defect ... do not function properly. The hearing loss in Treacher Collins syndrome is due to abnormalities in the structures of ...

159

Munchausen Syndrome\\/Munchausen Syndrome by Proxy  

Microsoft Academic Search

Munchausen syndrome (MS) is characterized by patients' chronic and relentless pursuit of medical treatment for combinations of symptoms of consciously self-inflicted injury and falsely reported symptomatology. MS patients are adults, as are perpetrators of Munchausen syndrome by proxy (MSBP). MSBP is an unusual form of child abuse in which a parent, usually the mother, brings a child for medical attention

John B. Murray

1997-01-01

160

[The Othello syndrome].  

PubMed

A case is described and 7 others are discussed of the Othello Syndrome, characterized by cognitive, affective and conative manifestations plus non-specific psychosomatic accesory symptoms. The nuclear symptom is the delusional or delusion-like idea of jealousy. The syndrome is seen in both sexes, as part of a number of clinical entities (paranoia, psychoses, organic brain syndromes, neuroses and personality disorders). Premorbid personality and family history are always abnormal. Cases of cocaine abuse, involutional melancholia and borderline syndrome are remarkers. The management of this syndrome and of its social sequelae is emphasized. PMID:7348062

Alarcon, R

1980-12-01

161

Sipple syndrome and pregnancy.  

PubMed

Sipple syndrome is an unusual entity during pregnancy. To our knowledge, this is the second case report of a pregnant patient with signs of Sipple syndrome. During pregnancy, this syndrome may present unusual complications, which require informed physician expertise for appropriate management. Our patient had a strong family history for Sipple syndrome, which is considered to be transmitted as an autosomal dominant. Thus, other family members, including the patient's offspring must be assessed frequently during their lifetime for any of the developing manifestations of this entity. Genetic counseling should be included in the management of all patients with Sipple syndrome. PMID:946212

Harris, R E; Gilstrap, L C; Brekken, A L

1976-03-15

162

Barth syndrome  

PubMed Central

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

2013-01-01

163

Barth syndrome.  

PubMed

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L; Groves, Sarah J; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M; McCurdy, Katherine R; Damin, Michaela K; Spencer, Carolyn T; Toth, Matthew J; Kelley, Richard I; Steward, Colin G

2013-01-01

164

Behcet's Syndrome.  

PubMed

Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).? inhibitors, among others. In this article, we review the salient clinical studies for each drug class along with important side effects as well as drug toxicity monitoring. Management of the patient with BS is complex and oftentimes requires a multidisciplinary approach. We discuss strategies to assess and stratify patients based on clinical manifestations and disease severity. A summary of drug toxicities as they relate to the aforementioned pharmacological agents, as well as guidelines regarding vaccinations in this patient population, are offered. Finally, we conclude with treatment strategies for the common manifestations of BS along with a discussion of the management of thrombotic disease in these patients. PMID:23153327

Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

2012-12-01

165

[Tic syndrome].  

PubMed

A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to streptococcal infection in the pathogenesis of tics. The differential diagnosis of tics is reviewed in detail. Above all tics represent a social disability. The ability to tolerate tics varies greatly from one individual to another, and the need for treatment is better defined by the patient than by the physician. Mild cases do not need be treated. Ideally, management should be multidisciplinary and can range from educative to supportive means or to intricate pharmacological interventions. The major form of treatment of the motor or vocal symptoms continues to be based on high-potency "typical" neuroleptics (tiaprid, pimozide, haloperidol), which induce a wide range of potentially serious side effects. In everyday practice we prefer to start with an "atypical" neuroleptic drug--for example, olanzapin (5-10 mg/day), risperidone or clozapine. Other drugs, such as clonidin or pergolid are widely used but their efficiency is still questionable. SSRIs (sertaline, citalopram, fluoxetin, fluvoxamine) or other antidepressants (clomipramine) have been used in treatment of psychiatric comorbid conditions, too. Botulinum toxin injections have proved useful in tics, targeting at the symptoms of blepharospasm, in neck and facial muscles. PMID:12185806

Czapli?ski, Adam; Steck, Andreas J; Fuhr, Peter

2002-01-01

166

Angelman Syndrome What is Angelman syndrome?  

E-print Network

syndrome also will show signs of autism spectrum disorder. Outbursts be treated? Early diagnosis and early intervention is the best treatment. Most with autism spectrum disorders face, so membership in a local chapter of The Arc

Palmeri, Thomas

167

Behavioral Phenotypes in Children with Down Syndrome, Prader-Willi Syndrome, or Angelman Syndrome  

Microsoft Academic Search

This study investigated the concept of behavioral phenotypes by comparing behavior ratings of 91 children with Down syndrome, 28 children with Prader-Willi syndrome, 68 children with Angelman syndrome, and 24 children with nonspecific mental retardation. Results supported distinctive behavioral profiles for the syndrome groups. The Down syndrome group showed good social skills and low ratings of problem behaviors including hyperactivity.

Nicolay Chertkoff Walz; Betsey A. Benson

2002-01-01

168

Metabolic Syndrome and Migraine  

PubMed Central

Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

Sachdev, Amit; Marmura, Michael J.

2012-01-01

169

Joint hypermobility syndrome pain  

Microsoft Academic Search

Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of\\u000a joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed,\\u000a multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features\\u000a of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome.

Rodney Grahame

2009-01-01

170

Monogenic Autoinflammatory Syndromes  

Microsoft Academic Search

\\u000a “Autoinflammatory syndromes” is the broad name given to a group of heritable conditions that initially consisted of a group\\u000a of diseases termed hereditary periodic fever syndromes. Autoinflammatory syndrome is the preferred name for these conditions, because not all of the disorders that have been added\\u000a to this class of inflammatory disorde rs present with periodic febrile episodes. In contrast to

Marco Gattorno; Alberto Martini; Raphaela Goldbach-Mansky; Pamela Aubert; Polly J. Ferguson

171

Meckel-Gruber syndrome  

Microsoft Academic Search

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys.\\u000a This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted\\u000a with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome.

N. Gazio?lu; M. Vural; M. S. Seçkin; B. Tüysüz; E. Akpir; C. Kuday; B. Ilikkan; A. Erginel; A. Cenani

1998-01-01

172

Meckel and Joubert Syndromes  

Microsoft Academic Search

\\u000a Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal\\u000a recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated\\u000a with defects in the structure and\\/or the function of the primary cilium. The cardinal features of Meckel syndrome include\\u000a the triad of brain anomalies

Melissa A. Parisi; Laura S. Finn; Ian A. Glass

173

Toxic Shock Syndrome (For Parents)  

MedlinePLUS

... Free Health Lessons Social Media: Connect With Us Toxic Shock Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > ... and Treatment When to Call the Doctor About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a ...

174

Genetics Home Reference: Tourette syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Tourette syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed May 2013 What is Tourette syndrome? Tourette syndrome is a complex disorder characterized ...

175

Gilles de la Tourette syndrome  

MedlinePLUS

Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. It ... norepinephrine) that help nerve cells signal one another. Tourette syndrome can be either severe or mild. Many ...

176

Irritable Bowel Syndrome in Children  

MedlinePLUS

... Bowel Syndrome in Children Irritable Bowel Syndrome in Children On this page: What is irritable bowel syndrome ( ... GI tract [ Top ] How common is IBS in children? Limited information is available about the number of ...

177

Down Syndrome and Alzheimer's Disease  

MedlinePLUS

Down Syndrome and Alzheimer's Disease Tweet As they age, those affected by Down syndrome have a greatly increased ... disease. About Symptoms Diagnosis Causes & risks Treatments About Down Syndrome and Alzheimer's Higher prevalence of Alzheimer's in people ...

178

Genetics Home Reference: Proteus syndrome  

MedlinePLUS

... gov Research studies OMIM Genetic disorder catalog Conditions > Proteus syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed June 2012 What is Proteus syndrome? Proteus syndrome is a rare condition characterized ...

179

Papillon-Lefevre syndrome.  

PubMed

Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmoplanter hyperkeratosis of the skin and severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous and permanent teeth as they erupt leading to precocious loss of dentition. Although the exact pathogenesis of this syndrome is still unknown immunologic, microbiologic, and genetic bases have been proposed. Here we report a case of Papillon-Lefevre syndrome. The patient had generalized plaque accumulation along with halitosis, mobile teeth with periodontal pocket with pus exudation. Blood & biochemical report was within normal limit with a low CD3+ and CD4+. PMID:22081200

Singh, V P; Sharma, A; Sharma, S

2011-10-01

180

Laugier-Hunziker syndrome  

PubMed Central

Laugier–Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier–Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier–Hunziker syndrome with its differential diagnosis. PMID:22923898

Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

2012-01-01

181

The Disuse Syndrome  

PubMed Central

Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

Bortz II, Walter M.

1984-01-01

182

Learning about Cri du Chat Syndrome  

MedlinePLUS

... Chromosomal Abnormalities An NHGRI fact sheet Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... Resources for cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...

183

Capgras' syndrome with organic disorders.  

PubMed Central

Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

1990-01-01

184

Epidemiology of Down Syndrome  

ERIC Educational Resources Information Center

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

2007-01-01

185

Thoracic outlet syndrome  

MedlinePLUS

... hands. Problems with the nerves cause almost all cases of thoracic outlet syndrome. Pressure may happen if you have: An extra rib, above the first one An abnormal tight band connecting the spine to the ribs. People with this syndrome often ...

186

Redefining syndromic surveillance.  

PubMed

With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field's capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries. PMID:23856373

Katz, Rebecca; May, Larissa; Baker, Julia; Test, Elisa

2011-12-01

187

Battered woman syndrome.  

PubMed

Recent judgments in the Court of Appeal have highlighted the significance of battered woman syndrome. This article describes the origin and features of the syndrome and some of its shortcomings. Medical aspects and legal applications of the concept are discussed. PMID:10696359

Dorkins, E; Smith, J

1998-12-01

188

Munchausen Syndrome by Proxy  

PubMed Central

Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

Yaacob, B.M.J

1999-01-01

189

Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

Wachtel, Tom J.; Pueschel, Siegfried M.

1991-01-01

190

Esotropia in Kabuki syndrome.  

PubMed

Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. The current patient shows esotropia and previously unreported nummular corneal opacities. PMID:21214160

Sharma, Pradeep; Dave, Vivek

2010-01-01

191

Burning Mouth Syndrome  

Microsoft Academic Search

Burning mouth syndrome is characterized by a painful burning or stinging sensation affecting the tongue or other areas of the mouth without obvious signs of an organic cause on physical examination. A burning mouth sensation can occur in several cutaneous or systemic diseases that must be ruled out prior to making a diagnosis of burning mouth syndrome, since this term

C. Brufau-Redondo; R. Martín-Brufau; R. Corbalán-Velez; A. de Concepción-Salesa

2008-01-01

192

The SAHA Syndrome  

Microsoft Academic Search

The presence of seborrhoea, acne, hirsutism and alopecia in women has first been summarized as SAHA syndrome in 1982 and can be associated with polycystic ovary syndrome, cystic mastitis, obesity and infertility. In 1994, the association of these androgen-dependent cutaneous signs, was classified according to their etiology into four types: (1) idiopathic, (2) ovarian, (3) adrenal, and (4) hyperprolactinemic SAHA.

Constantin E. Orfanos; YaeI D. Adler; Christos C. Zouboulis

2000-01-01

193

Second-Impact Syndrome  

ERIC Educational Resources Information Center

Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

Cobb, Sarah; Battin, Barbara

2004-01-01

194

What Causes Cushing's Syndrome?  

MedlinePLUS

... by the adrenal glands. These tumors cause about 15% of endogenous Cushing’s syndrome cases. Children are more likely to have this type ... TOP-ik ) Cushing’s disease and accounts for about 15% of non-medicine-related Cushing’s syndrome cases. 1 The tumors, either benign or cancerous, are ...

195

PLANT DEFENSE SYNDROMES  

Microsoft Academic Search

Given that a plant's defensive strategy against herbivory is never likely to be a single trait, we develop the concept of plant defense syndromes, where association with specific ecological interactions can result in convergence on suites of covarying defensive traits. Defense syndromes can be studied within communities of diverse plant species as well as within clades of closely related species.

Anurag A. Agrawal; Mark Fishbein

2006-01-01

196

Shaken Baby Syndrome  

Microsoft Academic Search

Shaken Baby Syndrome is a serious form of child abuse, involving infants under the age of six months. Deliberately shaking an infant is often associated with frustration or anger, particularly when an infant will not stop crying. The shaking results in numerous initial and long-term consequences for the developing infant. In its most severe form Shaken Baby Syndrome results in

Shannon LaEace Macdonald; Christine A. Helfrich

2001-01-01

197

Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

I. V. Meisheri; V. S. Waigankar; M. P. Patel; A. Naregal; S. Ramesh; P. Muthal

1996-01-01

198

The Othello Syndrome  

PubMed Central

A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

Famuyiwa, Oluwole O.; Ekpo, Micheal

1983-01-01

199

The Othello syndrome.  

PubMed

A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

Famuyiwa, O O; Ekpo, M

1983-02-01

200

Thoracic Outlet Syndrome  

Microsoft Academic Search

\\u000a Thoracic outlet syndrome (TOS) is a neurovascular entrapment syndrome of the upper extremity. It is most broadly separated\\u000a into vasculogenic (V-TOS) and neurogenic (N-TOS) subtypes. TOS occurs relatively rarely in sports but can be devastating when\\u000a it does.

Scott Laker; William J. Sullivan; Thomas A. Whitehill

201

Arterial thoracic outlet syndrome  

Microsoft Academic Search

Thoracic outlet syndrome (TOS) is a well described upper extremity disorder comprising neurovascular complications caused by thoracic outlet compression. By far neurogenic thoracic outlet syndrome is the most common manifesta- tion of this disorder. Arterial complications of thoracic outlet compression are much rarer, accounting for less than 5% of all operations performed for TOS. Major arterial degenerative and thromboembolic complications

Gerald M. Patton

202

The CHILD syndrome  

Microsoft Academic Search

The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of

R. Happle; H. Koch; W. Lenz

1980-01-01

203

Polycystic Ovary Syndrome  

MedlinePLUS

Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts ( ... who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: Infertility Pelvic pain Excess ...

204

White-Nose Syndrome  

NSDL National Science Digital Library

The Indiana Department of Natural Resource posted cave access restrictions sign at Clifty Falls State Park in southern Indiana in response to the lethal threat posed by White-Nose Syndrome to various cave-inhabiting bat species. White-Nose Syndrome is a bat disease that is still not well understood but is presumptively caused by the associated fungus Geomyces destructans.

Douglas Stemke (University of Indianapolis ;)

2011-04-28

205

Hypoplastic left heart syndrome in PAGOD syndrome.  

PubMed

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami

2014-06-01

206

Atraumatic painless compartment syndrome.  

PubMed

Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

2013-12-01

207

[Asthenic syndrome in patients with burnout syndrome].  

PubMed

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research. PMID:24429944

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

208

Maffucci's syndrome with oral manifestations.  

PubMed

Maffucci's syndrome is a rare congenital mesodermal dysplasia combined with dyschondroplasia and hemangiomatosis. About 150 cases have been reported till now. Maffucci's syndrome is often combined with other neoplasms. Herein, we report a patient with Maffucci's syndrome and hemangiomas on the dorsum of the tongue, which is rare in this syndrome. PMID:19566364

Lotfi, Ali; Moshref, Mohammad; Varshosaz, Masoud; Jaberi-Ansari, Shahrzad; Ghafouri, Arash

2009-07-01

209

The cardiofaciocutaneous syndrome  

PubMed Central

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward?slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain?of?function mutations in four different genes BRAF, KRAS, mitogen?activated protein/extracellular signal?regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal?regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP?2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. PMID:16825433

Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G

2006-01-01

210

Personality and metabolic syndrome.  

PubMed

The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N = 5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n = 2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR = 0.61, 95% CI = 0.41-0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR = 1.53, 95% CI = 1.09-2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors. PMID:20567927

Sutin, Angelina R; Costa, Paul T; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

2010-12-01

211

Joint hypermobility syndrome.  

PubMed

Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement. PMID:23597972

Fikree, Asma; Aziz, Qasim; Grahame, Rodney

2013-05-01

212

[Stiff-man syndrome].  

PubMed

The Stiff-man syndrome is a rare disease, which is characterized by continuous muscular rigidity and painful muscle spasm. Although large dose diazepam, baclofen, clonazepam, or clonidine benefit the symptoms significantly, the pathophysiology had been unknown until recently. In 1988 and 1990, Solimena et al. reported autoantibody against glutamic acid decarboxylase in sera and cerebrospinal fluids. Plasmapheresis was then applied to a patient with this syndrome, and the symptoms and the electromyographic activities decreased dramatically. The syndrome is likely to be an autoimmune disease, but further detailed studies are required as to the cause and pathophysiology and immunological treatment must should be established. PMID:8277586

Shindo, M

1993-11-01

213

Shaken baby syndrome.  

PubMed

1. Child abuse, in the form of Shaken Baby syndrome, has reached a critical level. 2. Education on a national level is crucial for change to help save the victims of Shaken Baby syndrome. The national statistics for child abuse reinforce that the United States must deal with the issue and focus on education. 3. Health care providers are in a strategic position to offer primary and secondary prevention interventions, to identify families at risk, and to recognize victims of Shaken Baby syndrome. PMID:7500305

Butler, G L

1995-09-01

214

Facts about Down Syndrome  

MedlinePLUS

... condition in which a person has an extra chromosome. Chromosomes are small â??packagesâ?ť of genes in the ... birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy ...

215

Childhood Nephrotic Syndrome  

MedlinePLUS

... or infections that cause changes in kidney function in Glomerular Diseases Overview at www.kidney.niddk.nih.gov . 1 Nephrotic syndrome. The Merck Manuals Online Medical Library. www.merckmanuals.com/home/kidney_and_urinary_tract_ ...

216

Klippel-Trenaunay syndrome  

MedlinePLUS

... present at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in ...

217

Complex Regional Pain Syndrome  

MedlinePLUS

Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

218

Fragile X Syndrome  

MedlinePLUS

Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

219

National Down Syndrome Society  

MedlinePLUS

... story and help ignite a new way of thinking about people with Down syndrome. Read More » Early Intervention The first years of life are a critical time in a child's development. All young children ...

220

Cushing syndrome - exogenous  

MedlinePLUS

... a higher than normal level of the hormone cortisol. This hormone is made in the adrenal glands . ... suggest exogenous Cushing syndrome: Low ACTH level Low cortisol level No response to an ACTH stimulation test ...

221

Shaken baby syndrome  

MedlinePLUS

... of whiplash, similar to what occurs in some auto accidents. Shaken baby syndrome does not result from ... with the child if you feel out of control. Contact a local crisis hotline or child abuse ...

222

Obesity Hypoventilation Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

223

Obesity hypoventilation syndrome (OHS)  

MedlinePLUS

Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... control over breathing and excess weight (due to obesity) against the chest wall. This makes it hard ...

224

Families and Fragile Syndrome  

E-print Network

Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family includes not only scientists, researchers, and health care providers, but also children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 Social and emotional

Rau, Don C.

225

Sick building syndrome.  

PubMed

Dr. Hodgson summarizes what is known about human symptoms and discomfort in the built environment, and formulates several critical hypotheses that show striking parallels to the questions arising from discussions of the IEI/MCS syndrome. PMID:10903551

Hodgson, M

2000-01-01

226

Antiphospholipid Antibody Syndrome  

MedlinePLUS

... fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies ... long term. If you have APS and another autoimmune disorder, it's important to control that condition as well. ...

227

Guillain-Barré Syndrome  

MedlinePLUS

... lives and activities. What Is Guillain-Barré Syndrome? Experts believe that GBS is an autoimmune disorder . These happen when the immune system , which usually protects us by attacking any invading ...

228

Lesch-Nyhan syndrome  

MedlinePLUS

... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Overexaggerated reflexes Spasticity Blood and urine tests may show high ...

229

Complex Regional Pain Syndrome  

MedlinePLUS

... injury. Your doctor may also call this condition reflex sympathetic dystrophy or causalgia. The cause of the ... specifically at dealing with chronic pain. Other Organizations Reflex Sympathetic Dystrophy Syndrome Association of America Questions to ...

230

Chronic Fatigue Syndrome  

MedlinePLUS

Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

231

Acute Radiation Syndrome  

MedlinePLUS

... Tools CDC Response, Japan 2011 Specific Hazards Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

232

Learning about Turner Syndrome  

MedlinePLUS

... nih.gov] More from Medline Plus Turner Syndrome Society of the United States [turnersyndrome.org] Encourages medical research, the dissemination of state-of-the-art TS information, and social support services to individuals, ...

233

Congenital nephrotic syndrome  

MedlinePLUS

... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

234

Irritable bowel syndrome.  

PubMed

The irritable bowel syndrome is a common disorder of gastrointestinal motility. Abdominal pain, bloating, and inconsistent bowel habits are the hallmark symptoms of irritable bowel syndrome. Fever, weight loss, and gastrointestinal bleeding often indicate more serious pathologic gastrointestinal conditions, such as inflammatory bowel disease or infectious enteritis. Because irritable bowel syndrome is so prevalent in our society, the primary care physician should be able to readily recognize the clinical features of this disorder in order to spare patients expensive, unnecessary diagnostic and therapeutic interventions. In this review, the authors discuss the clinical and psychological features of irritable bowel syndrome and offer a useful approach to the diagnosis and treatment of this disorder. PMID:1483881

Moscatello, S A; Cheskin, L J

1992-12-01

235

Carpal Tunnel Syndrome  

MedlinePLUS

... is collecting data about carpal tunnel syndrome among construction apprentices to better understand specific work factors associated ... and develop strategies to prevent its occurrence among construction and other workers. Scientists are also investigating the ...

236

Toxic shock syndrome  

MedlinePLUS

... by a toxin produced by certain types of Staphylococcus bacteria. A similar syndrome, called toxic shock-like ... men. Risk factors include: Recently having a baby Staphylococcus aureus ( S. aureus ) infection, commonly called a Staph infection ...

237

Carpal Tunnel Syndrome  

MedlinePLUS

... tunnel syndrome may have trouble typing on the computer or playing a video game. In fact, repetitive ... times as many women as men have CTS. Computer operators, assembly-line workers, and hair stylists are ...

238

Computer Vision Syndrome  

MedlinePLUS

... pain These symptoms may be caused by: poor lighting glare on the computer screen improper viewing distances ... Computer Vision Syndrome involves taking steps to control lighting and glare on the computer screen, establishing proper ...

239

Crigler-Najjar syndrome  

MedlinePLUS

... is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be ... syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed ...

240

Ectopic Cushing syndrome  

MedlinePLUS

... Cushing syndrome have: Round, red, and full face ( moon face ) Slow growth rate in children Weight gain ... urine sample to measure cortisol and creatinine levels Blood tests to check ACTH, cortisol , and potassium levels ...

241

[Paraneoplastic neurological syndromes].  

PubMed

Paraneoplastic neurological syndromes (PNS) are uncommon and defined by an acute or subacute neurological syndrome associated with a cancer. These syndromes often antedate the diagnostis of the underlying neoplasia that is usually not clinically evident. An early diagnosis is the main condition for a better neurological and carcinologic outcome. Subacute cerebellar ataxia, subacute sensitive neuropathy, limbic encephalomyelitis, Lambert-Eaton myasthenic syndrome, opsoclonus myoclonus, dermatopolymyositis and intestinal pseudo-obstruction belong to the well-characterized PNS and their presence must lead to onconeuronal antibodies (ONA) detection. Treatment of the underlying neoplasia is the mainstay of treatment to obtain a better outcome. However, recent findings lead to consider immunological specific treatment according to the subtype of associated ONA. PNS associated with ONA targeting membrane antigens are thus usually responsive to immunomodulator therapies. Conversely, PNS associated with ONA targeting intracellular antigens are of poor outcome despite mild improvement under immunosuppressive therapies in some patients. PMID:21036427

Didelot, A; Honnorat, J

2011-10-01

242

[Juvenile polyposis syndrome].  

PubMed

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations. PMID:22920200

Vasov?ák, P; Foretová, L; Puchmajerová, A; K?epelová, A

2012-01-01

243

Williams-Beuren Syndrome  

Microsoft Academic Search

Williams-Beuren syndrome (WBS; also called Williams syndrome) is a multisystem developmental disorder that is almost always\\u000a associated with an approx 1.5-Mb deletion of chromosome 7q11.23 (OMIM no. 194050). The deletion was identified in 1993 based\\u000a on the observation of phenotypic overlap with supravalvular aortic stenosis (SVAS), a distinct autosomal dominant disorder\\u000a affecting the cardiovascular system (1). It has since been

Stephen W. Scherer; Lucy R. Osborne

244

Hennekam lymphangiectasia syndrome  

PubMed Central

Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

2011-01-01

245

Adams-Oliver syndrome.  

PubMed

A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cutis on the scalp. There was no systemic involvement. The patient was placed on regular follow-up. PMID:24906278

Iftikhar, Nadia; Ahmad Ghumman, Faisal Iftikhar; Janjua, Shahbaz A; Ejaz, Amer; Butt, Umar Aftab

2014-05-01

246

Eltrombopag in Good's Syndrome  

PubMed Central

Good's syndrome is a rare acquired immunodeficiency associated with thymoma. Eltrombopag is a thrombopoietin receptor agonist and has been shown to be a valuable supplement to the treatment of several types of refractory cytopenias. In this paper, we describe a male patient suffering from Good's syndrome with immune-mediated T-cell driven pancytopenia and absence of megakaryopoiesis. He was successfully treated with eltrombopag resulting in a multilineage clinical response. PMID:25389501

Heldal, Dag

2014-01-01

247

Shah-Waardenburg syndrome.  

PubMed

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

2013-01-01

248

Bilateral silent sinus syndrome.  

PubMed

Silent sinus syndrome is a rare clinical entity associated with progressive enophthalmos, collapse of the maxillary sinus, and hypoglobus. We report a case of bilateral silent sinus syndrome in a 29-year-old man. Representative radiographic and intraoperative images are presented. The purpose of this article is to illustrate a new presentation of the disease and to review the current diagnostic and treatment modalities. PMID:23288826

Suh, Jeffrey D; Ramakrishnan, Vijay; Lee, Jennifer Y; Chiu, Alexander G

2012-12-01

249

Down syndrome in Israel  

Microsoft Academic Search

The incidence of Down syndrome was studied in Jerusalem for the years 1964-1970 showing an overall incidence rate of 2.43 per 1,000 live births. A National Down Syndrome Register was established in 1978 and data on annual incidence and mortality rates from 1979-1997 is presented. The incidence in 1997 was 1.0 per 1,000 live births, but 2.32 per 1,000, when

Joav Merrick

2001-01-01

250

Irritable Bowel Syndrome  

Microsoft Academic Search

\\u000a Irritable bowel syndrome (IBS) is a gastrointestinal syndrome characterized by chronic abdominal pain and altered bowel habits\\u000a in the absence of an organic cause. One of the four subtypes is IBS with diarrhea, defined as loose or watery stools ?25%\\u000a of bowel movements and hard or lumpy stools ?25% of bowel movements. The diagnostic approach to patients with IBS symptoms

Arnold Wald

251

[Chronic exertional compartment syndrome].  

PubMed

Chronic exertional compartment syndrome is an uncommon phenomenon first reported in the mid 50's. This condition is characterized by sharp pain during physical activity, causing reduction in activity frequency or intensity and even abstention. This syndrome is caused by elevation of the intra-compartmental pressure which leads to decreased tissue perfusion, thus ischemic damage to the tissue ensues. Chronic exertional syndrome is usually related to repetitive physical activity, usually in young people and athletes. The physical activity performed by the patient causes a rise in intra-compartmental pressure and thereby causes pain. The patient discontinues the activity and the pain subsides within minutes of rest. Chronic exertional syndrome is reported to occur in the thigh, shoulder, arm, hand, foot and gluteal region, but most commonly in the leg, especially the anterior compartment. The diagnosis of chronic exertional syndrome is primarily based on patients' medical history, supported by intramuscular pressure measurement of the specific compartment involved. Treatment of chronic exertional syndrome, especially the anterior and lateral compartment of the leg is mainly by surgery i.e. fasciotomy. If the patient is reluctant to undergo a surgical procedure, the conservative treatment is based on abstention from the offending activity, changing footwear or using arch support. However, the conservative approach is not as successful as surgical treatment. PMID:24450036

Rom, Eyal; Tenenbaum, Shay; Chechick, Ofir; Burstein, Gideon; Amit, Yehuda; Thein, Ran

2013-10-01

252

Microdeletion 3q syndrome.  

PubMed

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

Ramieri, Valerio; Tarani, Luigi; Costantino, Francesco; Basile, Emanuela; Liberati, Natascia; Rinna, Claudio; Cascone, Piero; Colloridi, Fiorenza

2011-11-01

253

Marfan's syndrome: an overview.  

PubMed

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

Yuan, Shi-Min; Jing, Hua

2010-12-01

254

Bardet-Biedl syndrome.  

PubMed

This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease. PMID:10831213

Hrynchak, P K

2000-05-01

255

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

Introduction The apical ballooning syndrome (ABS) is a single reversible cardiomyopathy often triggered by a stressful event. We aimed to present a case report regarding this disorder. Case presentation Here we present the case of a 77-year-old female hypertensive patient, sedentary and non-smoker, diagnosed with apical ballooning syndrome. We describe the clinical signs and symptoms, changes in markers of myocardial necrosis and changes in the electrocardiogram and coronary angiography. Conclusion The course of events patient showed clinical improvement with treatment and support was not necessary to administer specific medications or interventions to reverse the situation. After hemodynamic stabilization coronary angiography showed no obstructive lesions and left ventricle with akinesia of the apex and the middle portion of the left ventricle. PMID:23597307

2013-01-01

256

Focal Dermal Hypoplasia Syndrome (Goltz Syndrome)  

Microsoft Academic Search

The focal dermal hypoplasia (FDH) syndrome is a rare congenital condition (OMIM # 305600) that, as often occurs with other\\u000a neurocutaneous disorders, can affect various ectodermal and mesodermal tissues besides the skin. The skin manifestations predominate\\u000a and are essential for the diagnosis: these include atrophy and linear pigmentation of the skin, herniation of the fat through\\u000a dermal defects and multiple

Ignacio Pascual-Castroviejo; Martino Ruggieri

257

Do you know this syndrome?*  

PubMed Central

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

Kondo, Rogerio Nabor; Martins, Ligia Marcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araujo, Fernanda Mendes

2013-01-01

258

The Greig cephalopolysyndactyly syndrome.  

PubMed

The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G

2008-01-01

259

Fragile X Syndrome What is fragile X syndrome?  

E-print Network

be present. Can fragile X syndrome be treated? There is no cure for fragile X syndrome. However, early. These therapies may also be useful in addressing issues of shyness, depression, and worry in individuals

Bordenstein, Seth

260

Nijmegen breakage syndrome (NBS).  

PubMed

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. PMID:22373003

Chrzanowska, Krystyna H; Gregorek, Hanna; Dembowska-Bagi?ska, Bo?enna; Kalina, Maria A; Digweed, Martin

2012-01-01

261

Juvenile polyposis syndrome.  

PubMed

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

Brosens, Lodewijk Aa; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

2011-11-28

262

Juvenile polyposis syndrome  

PubMed Central

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

Brosens, Lodewijk AA; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

2011-01-01

263

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)  

PubMed Central

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure. PMID:19032739

Lo Muzio, Lorenzo

2008-01-01

264

Kabuki make-up syndrome associated with West syndrome.  

PubMed

A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome. PMID:9241911

Mitsudome, A; Yasumoto, S; Fukami, S; Ogawa, A

1997-06-01

265

Acquired Brown's syndrome associated with Hurler-Scheie's syndrome.  

PubMed Central

A 5-year-old Caucasian girl with known Hurler-Scheie's syndrome (mucopolysaccharidosis) developed a right Brown's syndrome while under orthoptic review. There was no evidence of trauma or inflammation of the superior oblique tendon, trochlea, or surrounding tissues. The Brown's syndrome in this case may be due to shortening of the superior oblique tendon, associated with the shortening of long tendons of the arms and feet, which is common in Hurler-Scheie's syndrome. Images PMID:2496743

Bradbury, J A; Martin, L; Strachan, I M

1989-01-01

266

Syndromic diarrhea/Tricho-hepato-enteric syndrome  

PubMed Central

Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévčre dont l’incidence est estimée ŕ 1 cas pour 1 million de naissances et la transmission autosomique récessive. La forme typique associe 5 signes cliniques: une diarrhée grave rebelle nécessitant dans la majorité des cas une nutrition parentérale du fait de la malnutrition, une dysmorphie avec un front large et bombé, une racine du nez large et un hypertélorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifiés de « laineux », un retard de croissance intra utérine et des anomalies de l’immunité ŕ type de déficit en immunoglobuline ou d’absence de réponse aux antigčnes vaccinaux. Des anomalies de deux protéines peuvent ętre ŕ l’origine du syndrome SD/THE: TTC37, une protéine ŕ motif TPR et SKIV2L, une hélicase ŕ ARN, toutes 2 étant des constituants du complexe SKI humain. Le complexe SKI est un co-facteur de l’exosome cytoplasmique qui assure la dégradation des ARN aberrants ou exogčnes. Le diagnostic est d’abord clinique puis confirmé par le séquençage des gčnes TTC37 et SKIV2L. Le diagnostic différentiel avec les autres formes de diarrhées intraitables est fait grâce aux analyses anatomopathologiques qui montrent dans les autres formes, des lésions spécifiques. La prise en charge clinique repose sur la nutrition parentérale et la supplémentation en immunoglobuline si nécessaire. Un certain nombre d’enfants peuvent ętre sevrés de la nutrition parentérale et des supplémentations en immunoglobulines. En cas d’atteinte hépatique, celle-ci peut ętre sévčre et conduire au décčs. Męme avec une prise en charge optimale, les enfants présentent une petite taille et, dans la moitié des cas, un retard mental modéré. Disease name/synonyms – Syndromic diarrhea – Phenotypic diarrhea – Tricho-hepato-enteric syndrome – Intractable diarrhea of infancy with facial dysmorphism &#x

2013-01-01

267

[Kabuki syndrome, a congenital syndrome with multiple anomalies  

Microsoft Academic Search

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to

A. M. den Biggelaar; A. M. Kuijpers-Jagtman; S. J. Berge; C. Katsaros

2006-01-01

268

Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

Mason, Linda; Cunningham, Cliff

2009-01-01

269

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.  

PubMed

CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due to dual sensory impairment affecting hearing and vision, rather than to primary autistic spectrum disorder, but successful remediation requires similar educational interventions, which are discussed herein. PMID:15637708

Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

2005-03-15

270

Kabuki syndrome revisited.  

PubMed

Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32?000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed. PMID:22437206

Bokinni, Yemisi

2012-04-01

271

[Paraneoplastic rheumatic syndromes].  

PubMed

Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, RaynaudĄs phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis. PMID:24007962

Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia

2012-01-01

272

[Münchausen syndrome by proxy].  

PubMed

Münchausen syndrome by proxy (also known as factitious disorder by proxy) is a psychiatric disorder which consists of fabricating or inducing illness in a child, usually by his mother. The motivation for the perpetrator's behavior is receivng satisfaction from the investigations and treatments that the child receives and from the medical environment, as part of a unique mental disturbance. External incentives for the behavior (such as economic gain) are absent. During the last few years about 20 cases of Münchausen syndrome by proxy were diagnosed in our ward. We describe a few less typical cases of patients with Münchausen syndrome by proxy. In all cases the offender, the mother, had only secondary education and no medical background. The socioeconomic background was variable. Recognition of the syndrome and a high index of clinical suspicion are needed in order to diagnose the disorder. Suspicious signs and symptoms include prolonged and illogical course of disease, odd complications, exacerbation that appear just before discharge from the hospital and symptoms that occur only in the presence of a specific care giver. Münchausen syndrome by proxy is not very rare. It appears in all ethnic groups, socioeconomic status and educational backgrounds. PMID:24416819

Scheuerman, Oded; Grinbaum, Iris; Garty, Ben Zion

2013-11-01

273

Genetics Home Reference: Crouzonodermoskeletal syndrome  

MedlinePLUS

... premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis ... may include treatment providers. Gene Review: FGFR-Related Craniosynostosis Syndromes Genetic Testing Registry: Crouzon syndrome with acanthosis ...

274

Genetics Home Reference: GRACILE syndrome  

MedlinePLUS

... and Families Resources for Health Professionals What glossary definitions help with understanding GRACILE syndrome? acidosis ; acids ; aciduria ; ... phosphorylation ; phosphorylation ; protein ; recessive ; syndrome You may find definitions for these and many other terms in the ...

275

Genetics Home Reference: Stormorken syndrome  

MedlinePLUS

... Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading ... for Stormorken syndrome? Stormorken-Sjaastad-Langslet syndrome thrombocytopathy, asplenia, and miosis For more information about naming genetic ...

276

Genetics Home Reference: Kabuki syndrome  

MedlinePLUS

... inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kabuki syndrome ... definitions help with understanding Kabuki syndrome? autosomal ; autosomal dominant ; cell ; chromosome ; cleft palate ; developmental delay ; disability ; DNA ; ...

277

Fragile X Syndrome: Other FAQs  

MedlinePLUS

... Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media ... there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile ...

278

Genetics Home Reference: Bloom syndrome  

MedlinePLUS

... Bloom's syndrome Bloom-Torre-Machacek syndrome congenital telangiectatic erythema For more information about naming genetic conditions, see ... congenital ; COPD ; diabetes ; dilated ; disabilities ; DNA ; double helix ; erythema ; fertility ; gene ; genome ; infertile ; inherited ; lower jaw ; menopause ; ...

279

Wolff-Parkinson-White syndrome  

MedlinePLUS

Wolff-Parkinson-White syndrome is a heart condition in which there is an abnormal extra electrical pathway of the ... to episodes of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common ...

280

Genetics Home Reference: Antiphospholipid syndrome  

MedlinePLUS

... can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's ... Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with ...

281

Genetics Home Reference: Sjögren syndrome  

MedlinePLUS

... any age. Sjögren syndrome is classified as an autoimmune disorder, one of a large group of conditions that ... is said to have secondary Sjögren syndrome. Other autoimmune disorders can also develop after the onset of primary ...

282

Genetics Home Reference: Troyer syndrome  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Troyer syndrome On this page: Description ... Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

283

Prader-Willi Syndrome (PWS)  

MedlinePLUS

... NICHD Research Information Clinical Trials Resources and Publications Prader-Willi Syndrome (PWS): Condition Information Skip sharing on social ... Schwartz, S., Miller, J. L., & Driscoll, D. J. (2011). Prader-Willi syndrome. Genetics in Medicine, 14, 10-26. [top] ...

284

Robinow syndrome with parental consanguinity  

Microsoft Academic Search

We describe the clinical features of Robinow syndrome in the first child of a consanguineous Turkish couple. This observation supports the view that severe vertebral anomalies are a feature of the autosomal-recessive form of Robinow syndrome.

D. Glaser; J. Herbst; K. Roggenkamp; W. Tünte; W. Lenz

1989-01-01

285

Genetics Home Reference: Asperger syndrome  

MedlinePLUS

... syndrome? Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized ... the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for ...

286

Metabolic Syndrome, Androgens, and Hypertension  

Microsoft Academic Search

Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is\\u000a also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of\\u000a obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension.\\u000a In men, obesity and metabolic syndrome

Mohadetheh Moulana; Roberta Lima; Jane F. Reckelhoff

2011-01-01

287

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

288

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

2010-01-01

289

Joint hypermobility syndrome pain.  

PubMed

Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

Grahame, Rodney

2009-12-01

290

Popliteal artery entrapment syndrome.  

PubMed

Intermittent claudication is frequently encountered in vascular surgical practice in atherosclerotic patients. However, it may also be observed in a younger subset of patients without any cardiovascular risk factors and can represent a challenging diagnosis. Popliteal artery entrapment syndrome is rare but can cause intermittent claudication in young people. There is a lack of consensus about optimal strategies or diagnosis and management, particularly for variants such as functional popliteal entrapment. Since the first description in 1959, knowledge of the pathology and the underlying anatomic abnormalities was advanced through sporadic publications of case reports and small case series, but popliteal artery entrapment syndrome still remains a rare anatomic abnormality. It can be difficult to differentiate from other causes of lower limb pain in young patients, and diagnosis can be challenging. We propose to review clinical symptomatology, classification, radiological diagnosis and treatment of popliteal entrapment syndrome. PMID:24796917

Lejay, A; Ohana, M; Lee, J T; Georg, Y; Delay, C; Lucereau, B; Thaveau, F; Gaertner, S; Chakfé, N

2014-04-01

291

[Economy class syndrome].  

PubMed

Economy class syndrome is venous thromboembolism following air travel. This syndrome was firstly reported in 1946, and many cases have been reported since 1990s. Low air pressure and low humidity in the aircraft cabin may contribute to the mechanism of this syndrome. Risk factors for venous thrombosis in the plane were old age, small height, obesity, hormonal therapy, malignancy, smoking, pregnancy or recent parturition, recent trauma or operation, chronic disease and history of venous thrombosis. In Japan, the feminine gender is also risk factor though reason was not well known. For prophylaxis, adequate fluid intake and leg exercise are recommended to all passengers. For passengers with high risk, prophylactic measures such as compression stockings, aspirin or low molecular weight heparin should be considered. PMID:14577308

Morio, Hiroshi

2003-10-01

292

Churg-strauss syndrome.  

PubMed

Churg-Strauss syndrome (CSS) is a rare granulomatous necrotizing small vessel vasculitis characterized by the presence of asthma, sinusitis, and hypereosinophilia. The cause of this allergic angiitis and granulomatosis is unknown. Other common manifestations are pulmonary infiltrates, skin, gastrointestinal, and cardiovascular involvement. No data have been reported regarding the role of immune complexes or cell mediated mechanisms in this disease, although autoimmunity is evident with the presence hypergammaglobulinemia, increased levels of IgE and Antineutrophil cytoplasmic antibody (positive in 40%). We report the case of a 27-year-old lady presenting with painful swelling of predominantly lower limbs with extensive vesicles and ecchymotic patches and fever shortly after stopping systemic steroids taken for a prolonged duration (2002--2010). The aim of this case report is to point to the possibility of CSS in patients presenting with extensive skin lesions masquerading as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Syndrome (SJS/TENS). PMID:22345778

Ghosh, Subhasish; Bhattacharya, Maitreyee; Dhar, Sandipan

2011-11-01

293

Isaacs' syndrome in pregnancy.  

PubMed

Isaacs' syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyperexcitability. Symptoms commonly include myokymia (muscle twitching at rest), pseudomyotonia (delayed muscle relaxation), muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange. To date only two cases of Isaacs' syndrome in pregnancy have been reported. We present a case of maternal Isaacs' along with a review of the literature. There are few reports of Isaacs' syndrome in pregnancy, but all are associated with favourable outcomes. Given the autosomal dominant inheritance pattern, genetic counselling of the gravida is recommended. Anticonvulsant may have to be used in pregnancy, and given the potential teratogenicity with several of these agents; preference should be given to newer drugs such as lamotrigine. PMID:25301428

Lide, Brianna; Singh, Jasbir; Haeri, Sina

2014-01-01

294

[History of nephrotic syndrome].  

PubMed

The history of nephrotic syndrome can go back to beginning of the era. In old Alexandria, urine was conceived to be produced in kidneys. In 1827, Bright classified diseases with proteinuria into three categories, and lipoid nephrosis seemed to be included in group 1. Mechanisms of urinary protein leakage have been in great controvesies, and nowadays defects of slit-membrane protein are supposed to play important roles. In the middle of the 20th centuries, electron microscopy and renal biopsy technique were adopted in practical use. Since then, the treatment and research of nephrotic syndrome have been remarkably progressed. Clinical strategies including diet therapy, immuno-suppressive and antihypertensive drugs and other modalities have improved the prognosis of nephrotic syndrome. PMID:15500117

Nihei, Hiroshi; Nitta, Kousaku; Yumura, Wako

2004-10-01

295

Shaken baby syndrome.  

PubMed

Fourteen cases of shaken baby syndrome seen between 1993 to 1997 at the Kaohsiung Medical College Hospital were reviewed. The common clinical presentations were seizure, respiratory problem and disturbed consciousness. The signs and symptoms of this form of head trauma were nonspecific. The findings may mimic infection, intoxication, seizure disorder or metabolic abnormalities. The CT scan is the most common diagnostic tool in cases of suspected shaken baby syndrome. The common CT findings were acute subdural hematoma followed by chronic subdural hematoma and subarachnoid hemorrhage. One infant died due to delay in seeking medical help. Five patients sustained significant morbidity which included developmental delay, seizure, motor deficit and visual impairment. Early recognition and prompt treatment were key to the overall success of case management. The incidence of shaken baby syndrome can be reduced through public awareness and education of the parents not to shake the baby. PMID:9542368

Loh, J K; Chang, D S; Kuo, T H; Howng, S L

1998-02-01

296

Cornelia de Lange syndrome.  

PubMed

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects. PMID:22630109

Noor, Nida; Kazmi, Zehra; Mehnaz, Ayesha

2012-06-01

297

Genetics Home Reference: Muenke syndrome  

MedlinePLUS

... are related to Muenke syndrome? Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that ... and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation ...

298

Failure Syndrome Students. ERIC Digest.  

ERIC Educational Resources Information Center

Students exhibiting failure syndrome approach assignments with low expectations of success and tend to give up at early signs of difficulty. This Digest delineates the nature of failure syndrome, suggests strategies for coping with failure syndrome students, and discusses how teachers can help. Some students, especially in the early grades, show…

Brophy, Jere

299

CHARGE Syndrome: An Educators' Primer  

Microsoft Academic Search

This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we highlight the implications for the inclusive education of children and youth

Katherine G. Smith; Isabel M. Smith; Kim Blake

2010-01-01

300

Genetics Home Reference: Horner syndrome  

MedlinePLUS

... syndrome have been identified. Where can I find information about diagnosis or management of Horner syndrome? These resources address the diagnosis ... of Ocular Disease Management You might also find information on the diagnosis or management of Horner syndrome in Educational resources and Patient ...

301

An Overview of Down Syndrome.  

ERIC Educational Resources Information Center

This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

Pueschel, Siegfried M.

302

Down Syndrome: A Cardiovascular Perspective  

ERIC Educational Resources Information Center

This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

2009-01-01

303

Review of shaken baby syndrome.  

PubMed

1. Shaken baby syndrome can lead to substantial neuropsychological deficits that can alter children's normal developmental course. 2. Clinical acumen can be critical in identifying shaken baby syndrome and preventing further difficulties. 3. Education and treatment for caregivers can be important in reducing the likelihood of shaken baby syndrome. PMID:11968533

Goldberg, Kenneth B; Goldberg, Richard E

2002-04-01

304

Autoinflammatory syndromes: diagnosis and management  

Microsoft Academic Search

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis

Sara De Sanctis; Manuela Nozzi; Marianna Del Torto; Alessandra Scardapane; Stefania Gaspari; Giuseppina de Michele; Luciana Breda; Francesco Chiarelli

2010-01-01

305

Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome  

PubMed Central

The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

2011-01-01

306

Thoracic Outlet Syndromes.  

PubMed

The clinical presentation of thoracic outlet syndrome depends on which anatomic structure is compressed in the area of the thoracic outlet (eg, the axillary-subclavian artery, vein, brachial plexus, or the sympathetic nerves). The clinical syndrome may be isolated to one or a mixture of these compressed anatomic structures. Although there are multiple compressive forces, the first rib is the common denominator, and extirpation of this structure is the "gold" standard for therapy. The various syndromes are discussed in their clinical order of frequency. For severe nerve compression, whether upper or lower brachial plexus, the best surgical procedure is the transaxillary first rib resection, anterior scalenectomy, and neurovascular decompression. Axillary-subclavian vein occlusion (ie, Paget-Schroetter syndrome) is best treated with early diagnosis, intravenous thrombolysis of the clot, transaxillary first rib resection anterior scalenectomy, and resection of the costoclavicular ligament. Arterial compression, occlusion, or aneurysm may occur with or without peripheral emboli and require a supraclavicular approach with arterial ligation, endarterectomy, or bypass grafts from the supraclavicular subclavian to the infraclavicular brachial artery. Compression of the sympathetic nerves produces vasospasm, Raynaud's phenomenon, or Raynaud's disease, requiring dorsal sympathectomy as well as first rib extirpation occasionally. This may be performed through the transaxillary, supraclavicular posterior, or thoracoscopic approach. Recurrent thoracic outlet syndrome may involve any or all of the above anatomic syndromes. The surgical approach is best from the posterior, high thoracoplasty, muscle-splitting incision, performing neurolysis of the C7, C8, and T1 nerve roots and the brachial plexus as well as release of any vascular constriction. PMID:12686013

Urschel, Harold C.; Patel, Amit

2003-04-01

307

Toe tourniquet syndrome.  

PubMed

Toe tourniquet syndrome refers to external, mechanical, circumferential constriction of the toes. We report a series of 4 infants with toe tourniquet syndrome from Saudi Arabia who presented during wintertime with very similar symptoms (approximately 48 hours of inconsolable crying and irritability), similar involved region (toes), and similar constricting agent (hairs). Immediate removal of the hair fibers was carried out in all patients, fortunately followed by fast healing with no signs of tissue necrosis. The prompt diagnosis and treatment of the condition were vital in attaining the good outcome and preventing ischemic complications.  PMID:25129188

Kamal, Naglaa M; Khan, Ubaid U; Mirza, Shazia J; Al-Malki, Talal A

2014-08-01

308

Recognizing battered wife syndrome.  

PubMed

Battered wife syndrome is difficult to detect because the women usually do not volunteer the diagnosis. They often present with vague somatic complaints such as headache, lower back pain, abdominal pain, pelvic pain and dyspareunia. Four case histories demonstrate the difficulty in recognizing the cause of these complaints. The diagnosis was often missed because straight-forward, non-threatening, open-ended questions were not asked initially. The family physician's primary role is to identify the syndrome and initiate psychotherapy. Psychotherapy is centred on reversing "learned helplessness" and developing a new self-concept. This can be enhanced by an interval or transition house. PMID:21274067

Swanson, R W

1985-04-01

309

Recognizing Battered Wife Syndrome  

PubMed Central

Battered wife syndrome is difficult to detect because the women usually do not volunteer the diagnosis. They often present with vague somatic complaints such as headache, lower back pain, abdominal pain, pelvic pain and dyspareunia. Four case histories demonstrate the difficulty in recognizing the cause of these complaints. The diagnosis was often missed because straight-forward, non-threatening, open-ended questions were not asked initially. The family physician's primary role is to identify the syndrome and initiate psychotherapy. Psychotherapy is centred on reversing “learned helplessness” and developing a new self-concept. This can be enhanced by an interval or transition house. PMID:21274067

Swanson, Richard W.

1985-01-01

310

Scintigraphy in Ochoa syndrome.  

PubMed

The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. Nuclear medicine images showed extensive bilateral renal scarring and obstructive pattern in diuretic renogram. PMID:23698458

Infante, Jose Rafael; Rayo, Juan I; Serrano, Justo; Domínguez, María L; García, Lucía; Durán, Carmen

2013-07-01

311

Dysmorphology of Barth syndrome.  

PubMed

Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al. (J Neurol Sci 62:327-355) in 1983. Many features of the Barth phenotype have been described but there is no published comment on the facial appearance of these boys, which is consistent and characteristic of this condition. PMID:19648820

Hastings, Rob; Steward, Colin; Tsai-Goodman, Beverly; Newbury-Ecob, Ruth

2009-10-01

312

Neonatal opioid withdrawal syndrome.  

PubMed

Neonatal opioid withdrawal syndrome is common due to the current opioid addiction epidemic. Infants born to women covertly abusing prescription opioids may not be identified as at risk until withdrawal signs present. Buprenorphine is a newer treatment for maternal opioid addiction and appears to result in a milder withdrawal syndrome than methadone. Initial treatment is with nonpharmacological measures including decreasing stimuli, however pharmacological treatment is commonly required. Opioid monotherapy is preferred, with phenobarbital or clonidine uncommonly needed as adjunctive therapy. Rooming-in and breastfeeding may decease the severity of withdrawal. Limited evidence is available regarding long-term effects of perinatal opioid exposure. PMID:24845493

Sutter, Mary Beth; Leeman, Lawrence; Hsi, Andrew

2014-06-01

313

Hypocomplementemic Urticarial Vasculitis Syndrome  

PubMed Central

Hypocomplementemic urticarial vasculitis syndrome, as opposed to urticarial vasculitis or urticarial vasculitis syndrome, is a rare disease process where the exact pathophysiology remains unknown. This article discusses the case of a 34-year-old Hispanic man with an ongoing history of chronic urticaria comprising episodes induced by low ambient temperatures, emotional stress, and spontaneous occurrences. This article serves as a consolidated reference for specialists to comprehensively review the plethora of systemic manifestations that may accompany urticarial vasculitis and highlights new systemic complications reported in association with this disease which are also observed in this case. PMID:22328958

Christensen, Jim; McCarty, Morgan

2012-01-01

314

Adolescent polycystic ovary syndrome.  

PubMed

Polycystic ovary syndrome (PCOS) can be identified in the adolescent years but is a process with genetic and epigenetic origins. Intrauterine growth retardation and premature adrenarche may precede the presentation of hyperandrogenism and oligo/anovulation. Other causes of hyperandrogenism and ovulatory dysfunction must be ruled out before PCOS is diagnosed. Obesity and insulin resistance often are associated features and greatly increase a girl's risk of developing metabolic syndrome and type 2 diabetes mellitus. Oral contraceptives, metformin, antiandrogens, and lifestyle modifications can have roles in alleviating the symptoms of PCOS and are reviewed in this article. PMID:22764561

Connor, Ellen Lancon

2012-04-01

315

Transient foreign accent syndrome.  

PubMed

Foreign accent syndrome (FAS) is a poorly understood and studied syndrome as it is indeed a rare entity. Since its first description in 1907 by French neurologist Pierre Marie involving a patient who presented with an Alsatian accent, there are approximately only 60 cases reported in the literature. The majority of such cases of FAS have been secondary to cerebrovascular accidents. Of the cases in the literature, none report such a transitory nature of FAS. In this particular case, a 55-year-old male presented with a foreign accent. This FAS was triggered by ischemia and was reversed after a seizure, the first reported in the literature. PMID:22674099

Bhandari, Hanul Srinivas

2011-01-01

316

Chronic cough hypersensitivity syndrome  

PubMed Central

Chronic cough has been suggested to be due to three conditions, asthma, post nasal drip, and reflux disease. A different paradigm has evolved in which cough is viewed as the primary condition characterised by afferent neuronal hypersensitivity and different aspects of this syndrome are manifest in the different phenotypes of cough. There are several advantages to viewing cough hypersensitivity as the unifying diagnosis; Communication with patients is aided, aetiology is not restricted and therapeutic avenues opened. Cough Hypersensitivity Syndrome is a more applicable label to embrace the clinical manifestations of this disabling disease. PMID:23668427

2013-01-01

317

Understanding Thoracic Outlet Syndrome  

PubMed Central

The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

Freischlag, Julie

2014-01-01

318

Arterial thoracic outlet syndrome.  

PubMed

Arterial thoracic outlet syndrome is a rare cause of shoulder pain due to compression of the subclavian or axillary artery within the thoracic outlet. It is the least common form of thoracic outlet syndrome but is potentially dangerous as it can result in significant morbidity. An athlete initially may present with exertional pain, early fatigability, a dull ache, or discomfort in the affected arm. History and physical examination are paramount in diagnosis, and imaging confirms the anatomy. Surgical repair or resection alleviates the compression of the affected structure and allows for a safe return to participation. Familiarity with this condition aids in the prompt diagnosis and treatment of this disorder. PMID:24614419

Daniels, Brian; Michaud, Leslie; Sease, Franklin; Cassas, Kyle J; Gray, Bruce H

2014-01-01

319

Dermatoglyphics in Down's syndrome.  

PubMed

Dermatoglyphic data were obtained from 235 cytogenetically confirmed patients of Down's syndrome. The data were correlated and compared with 230 controls. Printing and transparent adhesive tape photography methods were used to get the dermatoglyphic prints. Patients' total finger ridge counts and 'atd' angles differed significantly from that of the controls. Mostly ulnar loop pattern was observed in the patients. Abnormal dermatoglyphic features such as, simian crease, Sydney line and patterns in the hypothenar and interdigital areas have occurred more frequently in the patients. Dermatoglyphics and the analyses carried out have proved that they are invaluable in their clinical value, in selecting patients of Down's syndrome for cytogenetic analysis. PMID:7759898

Rajangam, S; Janakiram, S; Thomas, I M

1995-01-01

320

Noonan syndrome and moyamoya.  

PubMed

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits. The association between Noonan syndrome and moyamoya has not previously been described. Disruption of vascular development in prenatal life may have resulted in both cardiac and cerebrovascular disease in this child. PMID:9165521

Ganesan, V; Kirkham, F J

1997-04-01

321

Shaken baby syndrome.  

PubMed

Non-accidental head trauma in infants is the leading cause of infant death from injury. Clinical features that suggest head trauma (also known as shaken baby syndrome or shaken impact syndrome) include the triad consisting of retinal hemorrhage, subdural, and/or subarachnoid hemorrhage in an infant with little signs of external trauma. Abusive head injuries are among the most common causes of serious and lethal injuries in children. These injuries may result from impact or shaking or a combination of these mechanisms. These mechanisms cause the child's head to undergo acceleration/ deceleration movements, which may create inertial movement of the brain within the cranial compartment. PMID:18287904

Altimier, Leslie

2008-01-01

322

[Donohue syndrome or leprechaunism].  

PubMed

Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy. PMID:24388461

Planchenault, D; Martin-Coignard, D; Rugemintwaza, D; Bah, A-G; Cosson, L; Labarthe, F; Chantepie, A; Saliba, E

2014-02-01

323

Syndrome in Question*  

PubMed Central

Multiple autoimmune syndrome is a rare condition, described by Humbert and Dupond in 1988. It is defined by the association of at least 3 autoimmune diseases in the same patient. Vitiligo is the most common skin condition in this syndrome. This article presents the case of a 31-year-old male with vitiligo, alopecia areata, Crohn's disease, psoriasis vulgaris and oral lichen planus. The rarity of this case is highlighted by the coexistence of four autoimmune skin diseases in association with Crohn's disease, never described in the literature. PMID:24770525

Santos, Guida; Sousa, Lourdes

2014-01-01

324

Multiple Endocrine Neoplasia Syndromes  

PubMed Central

The multiple endocrine neoplasia (MEN) syndromes consist of three distinct disease entities. They have in common adenomatous, carcinomatous or hyperplastic involvement of a variety of endocrine glands, and an autosomal dominant inheritance. MEN I includes hyperparathyroidism, islet cell and pituitary tumors. The components of MEN IIa are hyperparathyroidism, medullary thyroid carcinoma and pheochromocytoma. MEN IIb includes multiple neuromas, medullary thyroid carcinoma and pheochromocytoma. Effective tests are available for the early detection of components of the syndromes in potentially affected patients. Screening can lead to therapeutic intervention before clinical sequelae ensue. PMID:6247851

Pont, Allan

1980-01-01

325

Treacher collins syndrome.  

PubMed

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

Chang, Christopher C; Steinbacher, Derek M

2012-05-01

326

Postaxial acrofacial dysostosis syndrome.  

PubMed

Three patients with a postaxial acrofacial syndrome are presented; the features of these and three other previously described examples are set forth. The facies can be strikingly similar to that of the Treacher Collins syndrome. The limb deficiencies are postaxial, with absence or incomplete development of the fifth digital rays in both the upper and lower limbs. Accessory nipples have been found in most of the patients. The nature of the limb deficiencies and the accessory nipples help to distinguish this condition from Nager AFD. All of the children have normal intelligence and development; most show normal growth. All of the six cases have occurred sporadically. PMID:501501

Miller, M; Fineman, R; Smith, D W

1979-12-01

327

Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome  

Microsoft Academic Search

Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five experiments assessed number skills in these two genetic syndromes and in their mental age (MA)

Sarah J. Paterson; Luisa Girelli; Brian Butterworth; Annette Karmiloff-Smith

2006-01-01

328

Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome.  

ERIC Educational Resources Information Center

Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…

Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.

2000-01-01

329

[Tall stature: some classical syndromes].  

PubMed

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics. PMID:17020230

Gusbin, N; Verloes, A; Daly, A; Beckers, A

2006-01-01

330

Monozygotic twins with Apert syndrome.  

PubMed

Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are sporadic, resulting from new mutations. Although there have been some descriptions of familial Apert syndrome, we could find only one previous description in the English literature about twinning in Apert syndrome. This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children. PMID:18215098

Breugem, Corstiaan C; Fitzpatrick, Donald F; Verchere, Cynthia

2008-01-01

331

Down Syndrome: Cognitive Phenotype  

ERIC Educational Resources Information Center

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

Silverman, Wayne

2007-01-01

332

Medial tibial stress syndrome  

Microsoft Academic Search

Lecture 9Medial tibial stress syndrome (MTSS) is an enigmatic condition with confusing terminology, the term often being used interchangeably with shin splints. It is suggested that MTSS and shin splints be used as generic rather than diagnostic terms. On account of variable definitions, the reported incidence rate varies from 4 to 35% in military and athletic populations. Broadly, it represents

Mark E Batt

2011-01-01

333

[Chronic relapsing compartment syndrome].  

PubMed

Chronic relapsing exertional compartment syndrome is not only found in young athletic subjects. Non-athletic patients can also suffer from exercise dependent pain in the lower limb. The syndrome is defined by increased tissue pressure in between a closed osteo-fibrous space resulting in disturbed microcirculation and finally irreversible neuroischemic damage. Pain increases during running and disappears gradually at rest. The diagnosis is based on the typical symptoms and so far on the pre-, 1 and 5 min post exercise intramuscular pressure measurement. We first describe sonographic criteria induced by increased compartment pressure, especially for the most frequent anterior compartment syndrome with compression of the deep veins, increased movement of arterial wall and finally enddiastolic closure of the anterior tibial artery. Duplex ultrasound also provides pathogenetic factors like popliteal and anterior entrapment, stenosis or hypoplasia of the anterior tibial artery or thrombosis of the deep muscle veins. Many patients are reporting a pain history over years, resulting in complete reduction of their sporting activity. The knowledge about pathogenesis, symptoms, diagnosis and therapy should help shorten the negative impact of the syndrome on their quality of life. PMID:19347380

Stiegler, H; Brandl, R; Krettek, C

2009-04-01

334

Chronic Exertional Compartment Syndrome  

Microsoft Academic Search

Chronic exertional compartment syndrome is defined as reversible ischemia within a closed fibro-osseous space, which leads to decreased tissue perfusion and ischemic pain. It is a recurrent problem seen most commonly in athletes. Diagnosis is based upon clinical examination, as well as measurement of compartment pressures. Conservative treatment has been attempted with moderate success if targeting associated and contributing factors;

Christopher A. George; Mark R. Hutchinson

335

Narcotic Bowel Syndrome  

MedlinePLUS

... medical issue to the health care community and society in general. Narcotic bowel syndrome was first reported over 25 years ago, but it remains under-recognized. There is a general lack of knowledge among health care providers about long-term effects ...

336

Tourette Syndrome: Classroom Implications  

ERIC Educational Resources Information Center

Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

2011-01-01

337

Facts about Tourette Syndrome  

MedlinePLUS

... families and hear about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ... developmental condition. The two most common conditions are attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). It is ...

338

Restless legs syndrome  

Microsoft Academic Search

Group A ?-hemolytic streptococcal infections have been reported to cause neuropsychiatric symptoms, such as chorea, tics, and obsessive-compulsive disorder, presumably through autoimmune damage to basal ganglia. Mycoplasma pneumoniae infections have also been reported to cause damage to the basal ganglia. Restless legs syndrome is a movement disorder with focal restlessness, an irresistible desire to move, and exacerbation by long periods

Muneaki Matsuo; Katsunori Tsuchiya; Yuhei Hamasaki; Harvey S. Singer

2004-01-01

339

Amniotic band syndrome.  

PubMed

Amniotic band syndrome is an uncommon congenital disorder without any genetic or hereditary disposition. It involves fetal entrapment in strands of amniotic tissue and causes an array of deletions and deformations. Primary treatment is plastic and reconstructive surgery after birth with in utero fetal surgery also coming in vogue. PMID:24426485

Shetty, Prathvi; Menezes, Leo Theobald; Tauro, Leo Francis; Diddigi, Kumar Arun

2013-10-01

340

Fibromyalgia syndrome in men  

Microsoft Academic Search

Objective: Fibromyalgia syndrome (FMS) is uncommon in men and data on its characteristics and severity are limited. The current study was undertaken to determine whether the clinical characteristics and the spectrum of this disorder are similar in men and women. Methods: Forty men with FMS were matched with 40 women by age and educational level. All subjects were asked about

Dan Buskila; Lily Neumann; Ali Alhoashle; Mahmoud Abu-Shakra

2000-01-01

341

What Is Sjögren's Syndrome?  

MedlinePLUS

... spit). The damage keeps these glands from working right and causes dry eyes and dry mouth. Doctors don't know the exact cause of Sjögren's syndrome. They think it may be caused by a combination of two things: Genes Exposure to something like ...

342

Anterior spinal artery syndrome  

Microsoft Academic Search

Three patients with symptoms due to the anterior spinal artery syndrome were treated by direct perfusion of dexamethasone sodium phosphate and urokinase into the artery of Adamkiewicz. Their symptoms were paraparesis with dissociated sensory loss and sphincter dysfunction, and there was no evidence of the possible cause. In the early phase of the disease, three consecutive injections were carried out

H. Baba; K. Tomita; T. Kawagishi; S. Imura

1993-01-01

343

Ehlers-Danlos syndrome  

MedlinePLUS

... six major types and at least five minor types of Ehlers-Danlos syndrome. A variety of gene mutations (changes) cause ... for prospective parents with a family history of Ehlers-Danlos ... should be aware of the type of EDS they have and its mode of ...

344

Kraepelin-fraud syndrome.  

PubMed

Emil Kraepelin (1856-1926) and Sigmund Freud (1856-1936) here (via mysterious mediumistic mechanisms) describe a syndrome, which probably emerged in the 1950s, and can now readily be observed at medical conferences. At its core, the syndrome is comprised of extreme abilities to compartmentalise information of the type found in scientific conferences, an episodic preoccupation with the surface of a science but inability to appreciate its substance (episodic logosagnosia) and a mood state that is heavily dependent on gratification from the range of outlets available at modern conferences. Current estimates of the frequency of the condition are that there are approximately 20 full-blown psychopharmacological carriers of the syndrome per 100 million populations. This should yield a figure of 200 in Europe and North America. If a similar phenomenon applies in other branches of medicine this would yield a further 1200 affected individuals in Western medical circles. It is of pressing interest to establish whether the Kraepelin-Fraud Syndrome exists to any degree in non-medical science, and whether there are differences between those sciences with and without significant commercial applications. PMID:19201547

Kraepelin, Emil; Freud, Sigmund; Healy, David

2009-04-01

345

The Tie retraction syndrome.  

PubMed

Tissue retraction is implicated in the pathogenesis of various ophthalmic disorders. Here we describe the clinical characteristics, epidemiology and pathophysiology of a form of retraction syndrome which - to the best of our knowledge - has not been reported in the ophthalmic literature so far. We have termed this condition - consisting of a slowly progressive pseudovertical shortening of tie length due to a horizontal extension of girth length - the "Tie retraction syndrome" (TRS). Other pathognomonic features include an increased tie tip to belt buckle distance and a prolapse of the subumbilical fat pad (SUFP). The syndrome has a clear male to female preponderance and shows an increasing incidence with age and income before tax. Based on a newly proposed grading scheme we discuss and illustrate the diagnosis as well as the medical and surgical management options of this abundant, but often undiagnosed condition. The authors have no explanation for the apparent lack of awareness for this widely preponderant syndrome and its severe cosmetically disfiguring potential. We thus would like to invite all fellow colleagues with expertise in the field to comment or present their views. PMID:23088329

Geerling, Gerd; Neppert, Birte; Hemmant, Bridget

2012-12-01

346

Paraneoplastic neurological syndromes  

PubMed Central

Purpose of review This review describes relevant advances in paraneoplastic neurological syndromes (PNS) with emphasis on particular syndromes and the impact of antibodies against surface antigens in their management. Recent findings PNS may present with symptoms that do not raise the suspicion of a paraneoplastic origin. The best example is anti-N-methyl-D-aspartate receptor encephalitis that in adult women frequently associates with ovarian teratoma. An electroencephalogram pattern described as ‘extreme delta brush’ was recently identified in 30% of patients with this disorder. Isolated myelopathy may have a paraneoplastic origin associated with amphiphysin or CV2 (CRMP5) antibodies. Jaw dystonia and laryngospasm can be the predominant symptom of the brainstem encephalitis associated with Ri antibodies. ?-Aminobutyric acid (GABA)B receptor antibodies are the most common antibodies found in patients with limbic encephalitis and small cell lung cancer, and contactin-associated protein 2 antibodies in patients with Morvan’s syndrome and thymoma. Lastly, a recent study identified delta/notch-like epidermal growth factor-related receptor (DNER) as the target antigen of Tr antibodies, a marker of cerebellar ataxia and Hodgkin’s lymphoma. Summary The number of antibodies relevant to PNS is now expanded to those against surface antigens. These antibodies do not confirm the paraneoplastic origin of the syndrome but predict a better response to immunotherapy. PMID:23041955

Graus, Francesc; Dalmau, Josep

2013-01-01

347

Neonatal Abstinence Syndrome  

Microsoft Academic Search

A 12 month review of infants admitted with neonatal abstinence syndrome to a neonatal intensive care unit was undertaken. The relationship of maternal drug abuse to symptoms, the effectiveness of pharmacologic agents in controlling symptoms and the length of inpatient stay were investigated. A retrospective review of maternal and infant records was performed. Those infants with a serial Finnegan score

D COGHLAN; M MILNER; T CLARKE; I LAMBERT; C MCDERMOT; M MCNALLY; M BECKETT; T MATTHEWS

1999-01-01

348

Aortic arch syndrome  

MedlinePLUS

Aortic arch syndrome refers to a group of signs and symptoms associated with structural problems in the arteries that branch off the aortic arch. The aortic arch is the top part of the main artery carrying blood away from the heart.

349

Fragile X Syndrome  

ERIC Educational Resources Information Center

This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

Schwarte, Andrea R.

2008-01-01

350

Fragile X Syndrome  

Microsoft Academic Search

This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in presentation among males and females. Comorbidity with autism is

Andrea R. Schwarte

2008-01-01

351

Carpal Tunnel Syndrome  

MedlinePLUS

... rheumatoid arthritis; mechanical problems in the wrist joint; work stress; repeated use of vibrating hand tools; fluid retention during pregnancy or menopause; or the development of a cyst or tumor in the ... wrist during work or leisure activities can cause carpal tunnel syndrome. ...

352

Cushing's syndrome or obesity  

Microsoft Academic Search

A rare case of the Cushing syndrome, due to bilateral adrenal hyperplasia is described. Because of generalized obesity, normal height, normal bone age and family history of obesity, a boy 10 years of age had at first been misdiagnosed as simple obesity. A reduction in height velocity, advancement of bone age and development of precocious pseudopuberty led to a more

Annemarie Koelz; Jiirg Girard

1976-01-01

353

Carpal tunnel syndrome  

Microsoft Academic Search

The anatomy of the carpal tunnel was studied by postmortem dissection of both wrists in ten adults with normal wrists. Preoperative clinical and EMG examinations were performed on 28 wrists in 23 patients suffering from carpal tunnel syndrome. Anatomical and histological studies were made in connection with operation, and postoperatively the condition was followed clinically and by EMG. Numbness, tingling,

H. Pätiälä; P. Rokkanen; O. Kruuna; E. Taponen; M. Toivola; V. Häkkinen

1985-01-01

354

Beckwith-Wiedemann syndrome  

PubMed Central

Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

2010-01-01

355

Modelling Down Syndrome  

ERIC Educational Resources Information Center

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

Buckley, Frank

2008-01-01

356

Noonan syndrome and moyamoya  

Microsoft Academic Search

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits.

V Ganesan; F. J Kirkham

1997-01-01

357

Shaken baby syndrome.  

PubMed

Shaken baby syndrome (SBS) is a violent act of abuse that can cause myriad neurologic, cognitive, and other functional deficits. In the most serious cases, death can result. Health care practitioners, child care providers, and parents must be educated on the signs of SBS. Cases should be thoroughly reviewed and prevention strategies developed to prevent future incidents. PMID:17073042

Miehl, Nickolaus J

2005-01-01

358

The Schnitzler syndrome  

PubMed Central

The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corresponding from the clinico-pathological viewpoint to a neutrophilic urticarial dermatosis, a monoclonal IgM component and at least 2 of the following signs: fever, joint and/or bone pain, enlarged lymph nodes, spleen and/or liver, increased ESR, increased neutrophil count, abnormal bone imaging findings. It is a chronic disease with only one known case of spontaneous remission. Except of the severe alteration of quality of life related mainly to the rash, fever and pain, complications include severe inflammatory anemia and AA amyloidosis. About 20% of patients will develop a lymphoproliferative disorder, mainly Waldenström disease and lymphoma, a percentage close to other patients with IgM MGUS. It was exceedingly difficult to treat patients with this syndrome until the IL-1 receptor antagonist anakinra became available. Anakinra allows a complete control of all signs within hours after the first injection, but patients need continuous treatment with daily injections. In many aspects, the Schnitzler syndrome resembles the genetically determined auto-inflammatory syndromes involving activating mutations of the NLRP3 inflammasome. This latter point and its consequences will be addressed. PMID:21143856

2010-01-01

359

Silent sinus syndrome.  

PubMed

We present a case of silent sinus syndrome (SSS) who underwent unilateral surgical endoscopic maxillary meatotomy. Orbital floor reconstruction is delayed after follow up. Enophthalmos recovered 8 months after the surgery and radiologic findings improved. SSS is a clinical entity that should be kept in mind in the differential diagnosis of enophthalmos and can be treated successfully via endoscopic approach. PMID:19845229

Miman, M C; Akarcay, M; Doganay, S; Erdem, T; Firat, Y

2009-01-01

360

Milwaukee Shoulder Syndrome  

PubMed Central

Milwaukee shoulder syndrome (MSS) is a rare destructive, calcium phosphate crystalline arthropathy. It encompasses an effusion that is noninflammatory with numerous aggregates of calcium hydroxyapatite crystals in the synovial fluid, associated with rotator cuff defects. We describe a patient that presented with recurrent shoulder pain and swelling with characteristic radiographic changes and MSS was confirmed on aspiration of the synovial fluid. PMID:24551470

Nadarajah, Channa Vasanth; Weichert, Immo

2014-01-01

361

The SSRI discontinuation syndrome  

Microsoft Academic Search

A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome appears to exist. It is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 h. A transient stage of serotonin dysregulation appears central

Peter Haddad

1998-01-01

362

Turner Syndrome in Adulthood  

Microsoft Academic Search

Turner syndrome is a common genetic disorder associated with abnormalities of the X chromosome and occurs in about 50 per 100,000 liveborn girls. It is associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids and infertility. Morbidity and mortality are increased throughout the lifespan. The average intellectual performance is within the normal range.

Claus Hřjbjerg Gravholt; D. B. DUNGER; G. S. CONWAY; J. A. H. WASS

2005-01-01

363

Eyes in arhinencephalic syndromes.  

PubMed Central

The ocular features of eight cases of arhinencephaly have been described. Prediction of the degree of brain involvement from the eye defects could not be made, but eye abnormalities were present in all cases. The relationship of these syndromes to chromosomal abnormalities is emphasized. In the less severe cases treatable endocrine dysgenesis must be excluded. Images PMID:812548

Karseras, A G; Laurence, K M

1975-01-01

364

Partial XYY syndrome  

Microsoft Academic Search

A 13-year-old boy with 47 chromosomes, an extra small metacentric chromosome and karyotype 47,XY,?Yq- is presented. He has psychiatric symptoms typical of boys with karyotype 47,XYY as seen in the tabulated results of a psychiatric study of 22 boys with the XYY syndrome, examined at the Cytogenetic Laboratory, Ĺrhus State Hospital, Risskov.

Kirsten Riber Christensen; Johannes Nielsen

1971-01-01

365

Prader-Willi Syndrome  

ERIC Educational Resources Information Center

Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

Kundert, Deborah King

2008-01-01

366

Raine syndrome: an overview.  

PubMed

Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management. PMID:25019372

Faundes, Víctor; Castillo-Taucher, Silvia; Gonzalez-Hormazabal, Patricio; Chandler, Kate; Crosby, Andrew; Chioza, Barry

2014-09-01

367

Sudden Infant Death Syndrome.  

ERIC Educational Resources Information Center

There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

Barnett, Henry L.; And Others

368

Locked-In Syndrome  

MedlinePLUS

... for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses ... endorsement by or an official position of the National Institute of Neurological ... Advice on the treatment or care of an individual patient should be ...

369

Syndrome in question*  

PubMed Central

Vulvovaginal-gingival syndrome is characterized by erosions and desquamation of the vulva, vagina, and gingiva. We reported a case of a 32-year-old woman presenting with an 8-year history of damage to the vulval and perianal anatomy and limitation of mouth opening. The patient's symptoms were relieved after treatment with topical tacrolimus cream. PMID:25184936

Wu, Yinhua; Qiao, Jianjun; Fang, Hong

2014-01-01

370

Meckel-Gruber syndrome.  

PubMed

Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects. PMID:18603929

Ramachandran, U; Malla, T; Joshi, K S

2006-01-01

371

Cornelia de lange syndrome  

Microsoft Academic Search

Summary  A 13-month-old boy having typical features of Cornelia de Lange syndrome is described. Two additional features were capillary\\u000a hemangiomata and abnormal dermatoglyphic patterns. He had repeated lower respiratory tract infections and succumbed at the\\u000a age of 15 months to bronchopneumonia.

Ishwar C. Verma

1970-01-01

372

Dravet Syndrome History  

ERIC Educational Resources Information Center

Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

Dravet, Charlotte

2011-01-01

373

Irritable Bowel Syndrome  

MedlinePLUS

... your belly area), constipation (when you can't poop), and diarrhea (when you poop too much). If you have irritable bowel syndrome, ... food particles are also known as stool, a bowel movement, or poop. Here's why an intestine gets "irritable." ...

374

Complex regional pain syndrome  

Microsoft Academic Search

Complex regional pain syndrome (CRPS) may develop after limb trauma and is characterized by pain, sensory-motor and autonomic symptoms. Most important for the understanding of the pathophysiology of CRPS are recent results of neurophysiological research. Major mechanism for CRPS symptoms, which might be present subsequently or in parallel during the course of CRPS, are trauma-related cytokine release, exaggerated neurogenic inflammation,

Frank Birklein; Neurologische Klinik

2005-01-01

375

Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.  

PubMed

In 1990, Petty et al. described two patients representing a novel syndrome with "congenital progeriod" features and neither had classical progeria nor Wiedemann-Rautenstrauch syndrome, though many findings were overlapping. One of the cases had previously been described by Dr. Wiedemann in 1948. The key features of Petty syndrome include pre and postnatal growth restriction, decreased subcutaneous fat with loose skin, enlarged fontanelle with underdeveloped calvarium, coronal synostosis, unruly hair pattern with non-uniform distribution, prominent eyebrows, umbilical hernia, distal digital hypoplasia, and normal or near normal development. Significant overlap to other syndromes, particularly the Fontaine-Farriaux syndrome, is apparent. In 2004, Ardinger postulated that Petty syndrome, like classical progeria, might be secondary to a defect in the lamin A/C (LMNA) gene. The purpose of this paper is to describe two new unrelated cases of this unique syndrome that further delineate the phenotype, compare to phenotypically similar syndromes, and postulate that Petty syndrome could represent a new laminopathy. In addition, evidence suggesting that the Petty syndrome and Fontaine-Farriaux syndromes are variable expressions of the same condition is discussed. PMID:20583180

Braddock, Stephen R; Ardinger, Holly H; Yang, Chun-Song; Paschal, Bryce M; Hall, Bryan D

2010-07-01

376

Psychosomatic Syndromes, Somatization and Somatoform Disorders  

Microsoft Academic Search

A psychosomatic syndrome is defined as a syndrome in which psychological processes play a substantial role in the etiology of the illness in some of the patients. The main conclusions on the extent of the biological and psychosocial contributions to several psychosomatic syndromes are presented and the relationship of these syndromes to somatization and somatoform disorders is discussed. The syndromes

Robert Kellner

1994-01-01

377

[Kabuki syndrome, a congenital syndrome with multiple anomalies].  

PubMed

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described. PMID:17193989

den Biggelaar, A M; Kuijpers-Jagtman, A M; Bergé, S J; Katsaros, C

2006-12-01

378

Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's  

E-print Network

Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus. Rather, the development process itself must be taken into account. Keywords: Williams syndrome, Down

Butterworth, Brian

379

Foreign accent syndrome mimicked by Garcin syndrome with spontaneous resolution.  

PubMed

An English speaking women developed a French accent, without any aphasic syndromes, in conjunction with multiple left sided cranial nerve deficits, temporally related to cranial trauma. Extensive testing with multimodality magnetic resonance imaging, cerebrospinal fluid and laboratory analysis was unremarkable. She was followed over a 3 year period during which her French accent resolved as did the majority of her multiple unilateral cranial neuropathies. The neurological diagnoses included a foreign accent syndrome attributed to a reversible Garcin syndrome. PMID:19096143

Hoffmann, Michael

2008-01-01

380

Exome analysis of connective tissue dysplasia: death and rebirth of clinical genetics?  

PubMed

Exome results are reported for two patients with connective tissue dysplasia, one refining a clinical diagnosis of Ehlers-Danlos to Marfan syndrome, the other suggesting arthrogryposis derived from maternofetal Stickler syndrome. Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) gene suggesting diagnoses of transthyretin amyloidosis, Marfan syndrome, and familial hemiplegic migraines, respectively. Patient 2 presented with arthrogryposis that was correlated with his mother's habitus and arthritis once COL2A1 mutations suggestive of Stickler syndrome were defined. Although DNA results often defy prediction by the best of clinicians, these patients illustrate needs for ongoing clinical scholarship (e.g., to delineate guidelines for management of mutations like that for hyperekplexia in Patient 2) and for interpretation of polygenic change that is optimized by clinical genetic/syndromology experience (e.g., suggesting acetazolamide therapy for Patient 1 and explaining arthrogryposis in Patient 2). PMID:24664531

Wilson, Golder N

2014-05-01

381

Microdeletion and Microduplication Syndromes  

PubMed Central

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. PMID:22396478

Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena, Juan C.; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas

2012-01-01

382

Juvenile polyposis syndrome  

PubMed Central

Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

Cichy, Wojciech; Klincewicz, Beata

2014-01-01

383

Adolescent rumination syndrome.  

PubMed

Rumination syndrome is the non-purposeful regurgitation of recently ingested food from the stomach to the mouth, where it is either expelled or reswallowed. Adolescent rumination syndrome (ARS) is a rare condition of which many physicians are unaware. Patients often are misdiagnosed or undergo costly testing, and as a result, diagnosis and treatment are often delayed. While ARS is not life-threatening, it does have medical and emotional effects on the patient and the patient's family. Diagnosis of ARS is based upon the Rome III diagnostic criteria. Antroduodenal manometry, while not required for a diagnosis, can be helpful to confirm the diagnosis. The pathogenesis of this disorder is complex and not well understood. However, because of its behavioral component, treatment of ARS requires a multidisciplinary approach that includes both medical management of symptoms and implementation of strategies that address behavioral, psychological, and general quality-of-life components of the disorder. PMID:25064317

Mousa, Hayat M; Montgomery, Mary; Alioto, Anthony

2014-08-01

384

[Clinical guideline 'Turner syndrome'].  

PubMed

Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium. PMID:24666534

van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

2014-01-01

385

Growing Teratoma Syndrome  

PubMed Central

Growing teratoma syndrome (GTS) is a rare clinical entity, which presents with enlarging teratomas masses of the retroperitoneum or other locations, occurring during or after systemic chemotherapy for the treatment of nonseminomatous germ cell of the testis (NSGCT), with normalised tumour markers. Awareness of this syndrome is necessary in order to prevent unnecessary chemotherapy and allow optimal management. Prognosis is excellent after the excision of these tumors, but surgery has to be as complete as possible. Surgical resection of bulky GTS lesions is technically challenging; intraoperative complications may occur; that is, why the treatment must not be delayed. Our experience in the surgical management of these lesions is reviewed in the following work. PMID:25197607

Scavuzzo, Anna; Santana Ríos, Zael Arturo; Noverón, Nancy Reynoso; Jimenez Ríos, Miguel Angel

2014-01-01

386

Down syndrome: cognitive phenotype.  

PubMed

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies focusing on the cognitive characteristics of Down syndrome were reviewed, and while performance in most areas could be predicted based upon overall intellectual disability, relative weaknesses were consistently found to be associated with expressive language, syntactic/morphosyntactic processing, and verbal working memory. This profile of uneven deficits could result from a failure to develop typically automatic processing for speech perception and production, and this possibility is discussed along with its implications for intervention. PMID:17910084

Silverman, Wayne

2007-01-01

387

[Greater trochanteric pain syndrome].  

PubMed

Greater trochanteric pain is one of the common complaints in orthopedics. Frequent diagnoses include myofascial pain, trochanteric bursitis, tendinosis and rupture of the gluteus medius and minimus tendon, and external snapping hip. Furthermore, nerve entrapment like the piriformis syndrome must be considered in the differential diagnosis. This article summarizes essential diagnostic and therapeutic steps in greater trochanteric pain syndrome. Careful clinical evaluation, complemented with specific imaging studies and diagnostic infiltrations allows determination of the underlying pathology in most cases. Thereafter, specific nonsurgical treatment is indicated, with success rates of more than 90?%. Resistant cases and tendon ruptures may require surgical intervention, which can provide significant pain relief and functional improvement in most cases. PMID:24414233

Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M

2014-01-01

388

Shaken baby syndrome  

PubMed Central

Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. An American radiologist, John Caffey, coined the name whiplash shaken infant syndrome in 1974. It was, however, a British neurosurgeon, Guthkelch who first described shaking as the cause of subdural haemorrhage in infants. Impact was later thought to play a major part in the causation of brain damage. Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies. PMID:12509690

Blumenthal, I

2002-01-01

389

Shaken baby syndrome.  

PubMed

Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. An American radiologist, John Caffey, coined the name whiplash shaken infant syndrome in 1974. It was, however, a British neurosurgeon, Guthkelch who first described shaking as the cause of subdural haemorrhage in infants. Impact was later thought to play a major part in the causation of brain damage. Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies. PMID:12509690

Blumenthal, I

2002-12-01

390

Pain syndromes in children.  

PubMed

The pediatric rheumatologist cares for children who may have a wide variety of causes of musculoskeletal pain. These include such diverse conditions as arthritis, low-back pain, hypermobility, metabolic bone pain, and amplified pain syndromes such as complex regional pain syndrome and fibromyalgia. This review examines the recent literature on these and other conditions causing musculoskeletal pain in children and adolescents. Overall, headway is being made, but differentiating soma from psyche remains a problem. This is perhaps due to the marked and unique effect pain brings to each of us. Children are different from adults in causes, presentations, and outcome. Vigilance in history, physical examination, and judicious use of laboratory investigations are usually sufficient in establishing a diagnosis, as well as an appreciation for the variety of presentations each condition can manifest. PMID:11123080

Sherry, D D

2000-08-01

391

[Mallory-Weiss syndrome].  

PubMed

The 18-years experience of the clinic is presented with diagnosis and curative tactics for the Mallory-Weiss syndrome which was observed in 65 (4.7%) of 1392 patients with acute gastroduodenal hemorrhages. Urgent esophagogastroduodenoscopy has improved diagnostics during the recent 5 years which resulted in 10% increased diagnosing of the Mallory-Weiss syndrome in gastroduodenal hemorrhage from the total amount of such patients. Before introducing of endoscopic hemostasis with Ferakryl into clinic 4 of 24 patients were operated on and 20 patients were treated by conservative hemostatic methods. Four patients died: 2 after operations and 2 after the conservative treatment. Complex conservative treatment with curative endoscopy and Ferakryl used in the clinic during the recent 2.5 years resulted in stable hemostasis in all the 41 patients without lethal outcomes. PMID:3727292

Pinski?, S B; Ageenko, V A; Bregel', A I

1986-03-01

392

Evolving phenotype of Marfan's syndrome  

PubMed Central

Accepted 20 August 1996? AIM—To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood.?METHODS—40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition.?RESULTS—Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome.?CONCLUSIONS—These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.?? PMID:9059160

Lipscomb, K.; Clayton-Smith, J.; Harris, R.

1997-01-01

393

The Williams syndrome cognitive profile.  

PubMed

Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on chromosome 7q11.23. In this article, we outline a Williams Syndrome Cognitive Profile (WSCP) that operationalizes the cognitive characteristics of the syndrome using measures of absolute and relative performance on subtests of the Differential Abilities Scales (Elliot, 1990a). Testing confirmed excellent sensitivity and specificity scores for the WSCP. Seventy-four of 84 individuals with Williams syndrome fit the WSCP while only 4 participants in a contrast group met all of the WSCP criteria. It was also found that the WSCP does not vary greatly with chronological age or overall level of cognitive ability for individuals with Williams syndrome. Possible applications for the WSCP include psychoeducational evaluation and empirical research such as the search for genotype/phenotype relations in this genetically based syndrome. PMID:11104544

Mervis, C B; Robinson, B F; Bertrand, J; Morris, C A; Klein-Tasman, B P; Armstrong, S C

2000-12-01

394

Exertional compartment syndrome.  

PubMed

Chronic exertional compartment syndrome should be considered in any runner experiencing exertional leg pain. Runners typically describe a tight, cramping ache over the involved compartment that commences at a reproducible point in the run and resolves with rest. Diagnosis should include a careful history and physical examination as well as documentation with intramuscular compartment pressure monitoring. Milder cases will resolve with activity modification and conservative care. More severe cases or those failing conservative care are referred for fasciotomy. PMID:20610031

Wilder, Robert P; Magrum, Eric

2010-07-01

395

Klinefelter syndrome: Case report  

PubMed Central

SUMMARY Objectives. The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Methodos. Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Result. Interceptive therapy aims to eliminate the functional interference that occurs during growth. Conclusion. For this reason it’s a must for the dentist to carefully monitor the oral health of the small patient immediately. PMID:23285366

CAPASSO, F.; PANETTA, F.; IERARDO, G.; PARISELLA, V.; POLIMENI, A.

2010-01-01

396

Smith–Magenis syndrome  

Microsoft Academic Search

Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding and fluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, while multiplex ligation-dependent probe amplification (MLPA)

Sarah H Elsea; Santhosh Girirajan

2008-01-01

397

Shaken-baby-Syndrom  

Microsoft Academic Search

Zusammenfassung  Das Shaken-baby-Syndrom (SBS) oder Schütteltrauma des Säuglings beschreibt die Koinzidenz subduraler Hämatome, retinaler Blutungen\\u000a und prognostisch ungünstiger, diffuser Hirnschäden durch heftiges Schütteln eines Säuglings. Die klinischen Symptome umfassen\\u000a Irritabilität, Trinkschwierigkeiten, Somnolenz, Apathie, zerebrale Krampfanfälle, Apnoe, Temperaturregulationsstörungen und\\u000a Erbrechen durch Hirndruck. Leichtere Symptome des SBS werden häufig nicht diagnostiziert, die Dunkelziffer ist wahrscheinlich\\u000a viel höher. Die Diagnose des SBS wird durch

W. Reith; T. Rohrer; F. Ahlhelm; P. Papanagiotou

2009-01-01

398

Kallmann syndrome: MRI findings  

PubMed Central

Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Magnetic resonance (MR) imaging is used to visualize the olfactory tracts and to evaluate the olfactory sulci. Five patients who clinically had hypogonadotrophic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine presence or absence of olfactory tract and to evaluate the olfactory sulci. PMID:24251137

Zaghouani, Houneida; Slim, Ines; Zina, Neila Ben; Mallat, Najoua; Tajouri, Houda; Kraiem, Chakib

2013-01-01

399

The silent sinus syndrome  

PubMed Central

The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Obstruction of the maxillary ostium appears to play a critical role in the development of SSS. Treatment involves functional endoscopic surgery. PMID:23946747

Sheikhi, Mahnaz; Jalalian, Faranak

2013-01-01

400

Syndrome in question*  

PubMed Central

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes. PMID:25387514

Peixoto, Isy Lima; Carreno, Ana Maria; Prazeres, Vania Mesquita Gadelha; Chirano, Caroline Albuquerque Rodrigues; Ihara, Gabriel Maroja; Akel, Patricia Bandeira de Melo

2014-01-01

401

Li–Fraumeni Syndrome  

Microsoft Academic Search

\\u000a In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni. Using a classical epidemiologic approach,\\u000a they retrospectively evaluated 280 medical charts and 418 death certificates of children diagnosed with rhabdomyosarcoma in\\u000a the United States from 1960 to 1964 [1,2]. Five families were identified in whom a second child had developed a soft tissue\\u000a sarcoma. In addition, a

David Malkin

402

Cryptophthalmos--syndactyly syndrome.  

PubMed

A 5 months old female baby was presented with congenital abnormality at the outpatients' department. She had syndactyly of proximal and middle phalanges of middle and ring fingers of both the hands and third and fourth toes of right foot. Ocular examination showed absent eyebrows and eyelashes and shallow orbits. The diagnosis was made of cryptophthalmos--syndactyly syndrome. She was operated upon. The outcome of the operation was very poor and the end result was disappointing. PMID:17240806

Sinha, Sony; Chaudhary, S N

2006-08-01

403

Burning mouth syndrome  

Microsoft Academic Search

Burning mouth syndrome (BMS) is a chronic disease characterized by burning of the oral mucosa associated with a sensation\\u000a of dry mouth and\\/or taste alterations. BMS occurs more frequently among postmenopausal women. The pathophysiology of the disease\\u000a is still unknown, and evidence is conflicting; although some studies suggest a central origin, others point to a peripheral\\u000a neuropathic origin. The efficacy

José G. Speciali; Juliana Stuginski-Barbosa

2008-01-01

404

“Secondary” Polycystic Ovary Syndrome  

Microsoft Academic Search

Hyperandrogenism and menstrual irregularities are the most common endocrine symptoms in premenopausal women. The vast majority\\u000a of these women suffer from the polycystic ovary syndrome (PCOS), which is defined as a state of “gonadotropin-dependent functional\\u000a hyperandrogenism and oligo-anovulation” in which no distinct autonomous source of androgen secretion is identified. PCOS is\\u000a a chronic disorder characterized by specific clinical, endocrine, and

Gregory Kaltsas; George Chrousos

405

Long QT Syndrome  

Microsoft Academic Search

\\u000a Over the past half century, LQTS has matriculated through several critical milestones including its sentinel clinical description,\\u000a clinical diagnostic scorecard, pathogenetic discovery, decade of research-based genetic testing and genotype–phenotype correlations,\\u000a and clinical availability of genetic testing. In this chapter, we will discuss the history, epidemiology, and clinical presentations\\u000a of congenital long QT syndrome (LQTS). We will clarify current diagnostic approaches

Jonathan N. Johnson; Michael J. Ackerman

406

The postthrombotic syndrome  

Microsoft Academic Search

Following deep vein thrombosis (DVT), one of every two patients will develop postthrombotic syndrome (PTS), which causes remarkable\\u000a consequences on the socioeconomic level. Residual thrombosis is an important predictor of PTS, and severe early symptoms,\\u000a old age, obesity, improper anticoagulation, recurrent thrombosis and varicose veins are major risk factors. Diagnosis of PTS\\u000a is mainly based on the clinical findings for

Raffaele Pesavento; Sabina Villalta; Paolo Prandoni

2010-01-01

407

Irritable bowel syndrome  

Microsoft Academic Search

Opinion Statement  I believe there are four essential elements in the management of patients with irritable bowel syndrome (IBS): to establish\\u000a a good physician-patient relationship; to educate patients about their condition; to emphasize the excellent prognosis and\\u000a benign nature of the illness; and to employ therapeutic interventions centering on dietary modifications, pharmacotherapy,\\u000a and behavioral strategies tailored to the individual.\\u000a \\u000a Initially, I

Arnold Wald

1999-01-01

408

Complex regional pain syndrome  

Microsoft Academic Search

Opinion statement  Complex regional pain syndrome (CRPS) is a heterogeneous disorder that falls in the spectrum of neuropathic pain disorders.\\u000a It is maintained by abnormalities throughout the neuraxis (the peripheral, autonomic, and central nervous systems). The pathophysiology\\u000a of CRPS is not fully known. There are no scientifically well-established treatments. The diagnostic criteria for CRPS at this\\u000a time are purely clinical, and

Ok Yung Chung; Stephen P. Bruehl

2003-01-01

409

Rotational vertebral artery syndrome  

Microsoft Academic Search

Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited\\u000a by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral\\u000a peripheral or central vestibular structures, is still debated. We report on a patient with bilateral high-grade carotid stenoses,\\u000a in whom rightward headrotation led to RVAS symptoms including

Sarah Marti; Stefan Hegemann; Hans-Christian von Büdingen; Ralf W. Baumgartner; Dominik Straumann

2008-01-01

410

Shaken baby syndrome  

Microsoft Academic Search

A 35-day-old male infant with presumed shaken baby syndrome is reported. This first born child to mother educated upto middle\\u000a school and father tailor by occupation was brought from a remote village 180 kms away from JIPMER. Poor feeding, focal clonic\\u000a seizures were the initial symptoms. The fundus examination revealed fresh preretinal and vitreous hemorrhages. CT Brain showed\\u000a right sided

T. Arun Babu; C. Venkatesh; S. Mahadevan

2009-01-01

411

Shaken baby syndrome.  

PubMed

Shaken baby syndrome is a significant cause of infant morbidity and mortality and is widely recognized in the medical literature. Classic signs include retinal hemorrhage, subdural or subarachnoid hemorrhage, and associated fractures. Most victims are younger than 6 months old and have been affected by violent shaking with rapid angular deceleration and possible terminal impact. This article summarizes issues related to clinical presentation, diagnosis, risk factors, and interventions for healthcare professionals. PMID:12803149

Smith, Julie

2003-01-01

412

Budd-Chiari Syndrome  

Microsoft Academic Search

\\u000a The Budd-Chiari syndrome (BCS) is an uncommon and life-threatening disorder defined as the obstruction of hepatic venous outflow\\u000a regardless of its causative mechanism or level of obstruction. The clinical presentation of BCS is highly variable and can\\u000a range from asymptomatic cases to ­fulminant hepatic failure with encephalopathy. In the vast majority of cases, it is possible\\u000a to identify an inherited

Susana Seijo-Ríos; Puneeta Tandon; Jaime Bosch; Juan Carlos García-Pagán

413

Klippel-Trenaunay Syndrome  

Microsoft Academic Search

Klippel-Trenaunay syndrome is characterised by (a) combined vascular malformations of the capillary, venous, and lymphatic\\u000a types, (b) varicosities of unusual distribution, in particular a lateral venous anomaly observed during infancy or childhood,\\u000a and (c) limb enlargement with limb asymmetry (Berry et al. 1998; Cohen 2000, 2002, 2006; Cohen et al. 2002; Gorlin et al. 2001; Huang and Creath 1994).

Martino Ruggieri; Concezio Di Rocco; Orhan Konez

414

The Schnitzler syndrome  

Microsoft Academic Search

The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired\\/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corresponding from the clinico-pathological viewpoint to a neutrophilic urticarial dermatosis, a monoclonal IgM component and at least 2 of the following signs: fever, joint and\\/or bone pain, enlarged lymph nodes,

Dan Lipsker

2010-01-01

415

The silent sinus syndrome.  

PubMed

The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Obstruction of the maxillary ostium appears to play a critical role in the development of SSS. Treatment involves functional endoscopic surgery. PMID:23946747

Sheikhi, Mahnaz; Jalalian, Faranak

2013-03-01

416

Vascular Thoracic Outlet Syndrome  

Microsoft Academic Search

  Abstract\\u000a \\u000a The surgical treatment of 30 cases of vascular thoracic outlet syndrome (TOS) in 25 patients is presented. Patients included\\u000a 17 women and 8 men with average age of 26.1 years. The causes of compression were cervical rib (n = 16), soft tissue anomalies (n = 12), and scar tissue after clavicle fracture (n = 2). Ten subclavian artery aneurysms

Lazar B. Davidovic; Dusan M. Kostic; Nenad S. Jakovljevic; Ilija L. Kuzmanovic; Tijana M. Simic

2003-01-01

417

Kallmann syndrome: MRI findings.  

PubMed

Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Magnetic resonance (MR) imaging is used to visualize the olfactory tracts and to evaluate the olfactory sulci. Five patients who clinically had hypogonadotrophic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine presence or absence of olfactory tract and to evaluate the olfactory sulci. PMID:24251137

Zaghouani, Houneida; Slim, Ines; Zina, Neila Ben; Mallat, Najoua; Tajouri, Houda; Kraiem, Chakib

2013-10-01

418

Irritable Bowel Syndrome  

Microsoft Academic Search

Irritable Bowel Syndrome (IBS) is a chronic and fluctuating functional gastrointestinal disorder characterized by abdominal\\u000a pain and discomfort and accompanying altered bowel habit. The prevalence of IBS is estimated at about 10–13% in the United\\u000a States. The etiology of IBS is poorly understood, but the relations noted between stress, heightened sensitivity to stimuli\\u000a and gastrointestinal symptoms has been labeled by

Laurie Keefer; Edward B. Blanchard

419

Cornelia de Lange Syndrome  

Microsoft Academic Search

\\u000a \\u000a Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically\\u000a characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and\\u000a other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of

Jinglan Liu; Gareth Baynam

420

Dry Eye Syndrome  

PubMed Central

Our understanding of keratoconjunctivitis sicca (KCS), also known as dry eye syndrome, has been changed over recent years. Until lately, the condition was thought to be merely due to aqueous tear insufficiency. Today, it is understood that KCS is a multifactorial disorder due to inflammation of the ocular surface and lacrimal gland, neurotrophic deficiency and meibomian gland dysfunction. This change in paradigm has led to the development of new and more effective medications. PMID:22454735

Javadi, Mohammad-Ali; Feizi, Sepehr

2011-01-01

421

Treacher Collins syndrome.  

PubMed

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article. PMID:22144845

Shete, Prachi; Tupkari, Jv; Benjamin, Tabita; Singh, Aarti

2011-09-01

422

Frailty syndrome: an overview  

PubMed Central

Frailty is a common and important geriatric syndrome characterized by age-associated declines in physiologic reserve and function across multiorgan systems, leading to increased vulnerability for adverse health outcomes. Two major frailty models have been described in the literature. The frailty phenotype defines frailty as a distinct clinical syndrome meeting three or more of five phenotypic criteria: weakness, slowness, low level of physical activity, self-reported exhaustion, and unintentional weight loss. The frailty index defines frailty as cumulative deficits identified in a comprehensive geriatric assessment. Significant progress has recently been made in understanding the pathogenesis of frailty. Chronic inflammation is likely a key pathophysiologic process that contributes to the frailty syndrome directly and indirectly through other intermediate physiologic systems, such as the musculoskeletal, endocrine, and hematologic systems. The complex multifactorial etiologies of frailty also include obesity and specific diseases. Major clinical applications include risk assessment and stratification. This can be applied to the elderly population in the community and in a variety of care settings. Frailty may also be useful for risk assessment in surgical patients and those with cardiovascular diseases, cancer, or human immunodeficiency virus infection, as well as for assessment of vaccine effectiveness in older adults. Currently, exercise and comprehensive geriatric interdisciplinary assessment and treatment are key interventions for frailty. As understanding of the biologic basis and complexity of frailty further improves, more effective and targeted interventional strategies and innovative geriatric-care models will likely be developed. PMID:24672230

Chen, Xujiao; Mao, Genxiang; Leng, Sean X

2014-01-01

423

Vitreomacular traction syndrome.  

PubMed

The advent of new technologies such as high definition optical coherence tomography (OCT) has not only provided unprecedented imaging capabilities, but also raised the need to define concepts not yet settled and often confusing such as the vitreomacular traction (VMT) syndrome. While technological advances drive us into the future by clarifying the pathophysiology of many diseases and enabling novel therapeutic options, it is at the same time necessary to review basic disease concepts in addition to definitions and classifications. VMT syndrome is implicated in the pathophysiology of a number of macular disorders, translating into a variety of anatomical and functional consequences underscoring the complexity of the condition. These macular changes are closely related to the VMT configuration and have led to proposing classification of this syndrome based on OCT findings. The size and severity of the remaining vitreomacular attachment may define the specific maculopathy. Focal VMT usually leads to macular hole formation, tractional cystoid macular edema and foveal retinal detachment, while broad VMT is associated with epiretinal membranes, diffuse retinal thickening and impaired foveal depression recovery. Despite similar postoperative visual acuity (VA) in focal and broad VMT subgroups, visual improvement is greater with focal VMT because preoperative VA is frequently lower. Surgical procedures are effective to relieve VMT and improve VA in most eyes; outcomes vary with VMT morphology and the duration of symptoms. PMID:23275824

Bottós, Juliana; Elizalde, Javier; Arevalo, J Fernando; Rodrigues, Eduardo B; Maia, Maurício

2012-04-01

424

IGSF1 deficiency syndrome  

PubMed Central

A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy “IGSF1 deficiency syndrome.” Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty. PMID:25002994

Joustra, Sjoerd D.; van Trotsenburg, A. S. Paul; Sun, Yu; Losekoot, Monique; Bernard, Daniel J.; Biermasz, Nienke R.; Oostdijk, Wilma; Wit, Jan M.

2013-01-01

425

Milk-alkali syndrome.  

PubMed

Milk-alkali syndrome (MAS) consists of hypercalcemia, various degrees of renal failure, and metabolic alkalosis due to ingestion of large amounts of calcium and absorbable alkali. This syndrome was first identified after medical treatment of peptic ulcer disease with milk and alkali was widely adopted at the beginning of the 20th century. With the introduction of histamine2 blockers and proton pump inhibitors, the occurrence of MAS became rare; however, a resurgence of MAS has been witnessed because of the wide availability and increasing use of calcium carbonate, mostly for osteoporosis prevention. The aim of this review was to determine the incidence, pathogenesis, histologic findings, diagnosis, and clinical course of MAS. A MEDLINE search was performed with the keyword milk-alkali syndrome using the PubMed search engine. All relevant English language articles were reviewed. The exact pathomechanism of MAS remains uncertain, but a unique interplay between hypercalcemia and alkalosis in the kidneys seems to lead to a self-reinforcing cycle, resulting in the clinical picture of MAS. Treatment is supportive and involves hydration and withdrawal of the offending agents. Physicians and the public need to be aware of the potential adverse effects of ingesting excessive amounts of calcium carbonate. PMID:19252114

Medarov, Boris I

2009-03-01

426

Werner-Syndrom  

PubMed Central

Das Werner-Syndrom ist eine segmental progeroide Erkrankung mit Beginn in der Adoleszenz oder im frühen Erwachsenenalter. Typische Symptome, die zum vorgealterten Phänotyp beitragen, sind ein post-pubertär auftretender Kleinwuchs, Katarakte, eine vorzeitige Ergrauung/Ausdünnung des Haupthaars, sklerodermieähnliche Hautveränderungen und eine regionale Atrophie des subkutanen Fettgewebes. Darüber hinaus kommt es früh und gehäuft zu „Alterserkrankungen“ wie z. B. einem Diabetes mellitus Typ 2, einer Osteoporose, einer Atherosklerose sowie verschiedenen malignen Tumoren. Das Werner-Syndrom wird autosomal- rezessiv vererbt und ist durch Mutationen im Werner-Gen (WRN) bedingt. Es wurden bis heute mehr als 70 über das gesamte Gen verteilte Mutationen identifiziert, die typischerweise zu einem Verlust der Genfunktion führen. WRN kodiert für eine RecQ-Typ- Helikase, die u. a. an der DNA-Reparatur und der Aufrechterhaltung der DNA-Integrität beteiligt ist, was sich in einer erhöhten genetischen Instabilität in Patientenzellen wider-spiegelt. Trotz der relativen Seltenheit ist die Analyse des Werner-Syndroms von allgemeiner Bedeutung, um die Rolle der DNA-Stabilität und Integrität für das Altern sowie die Entwicklung altersassoziierter Erkrankungen besser zu verstehen.

Lessel, D.; Oshima, J.; Kubisch, C.

2013-01-01

427

Biochemistry of HELLP syndrome.  

PubMed

The HELLP syndrome is a serious complication of pregnancy characterized by hemolysis (H), elevated liver (EL) enzymes, and low platelet (LP) count that occurs in 0.2-0.6% of all pregnancies and in 10-20% of cases with severe preeclampsia and frequently leads to adverse maternal and perinatal outcome. The exact pathobiology of HELLP syndrome has not been clearly defined. As it is considered a form or a complication of severe preeclampsia, it likely has its origin in aberrant placental development and function resulting in ischemia-producing oxidative stress. However, there is still a debate on whether HELLP must be considered a severe form of preeclampsia or a separate disease entity. It can be described as a placenta-induced disease, as is preeclampsia itself, but with a more acute and predominant inflammatory process typically targeting the liver and with a greater activation of the coagulation system. This occurs during a disordered immunologic process and may be due to a genetic predisposition. In this review, we discuss the main biochemical characteristics of HELLP syndrome, particularly focusing on molecular aspects of placental involvement and maternal systemic responses. PMID:21404915

Benedetto, Chiara; Marozio, Luca; Tancredi, Annalisa; Picardo, Elisa; Nardolillo, Paola; Tavella, Anna Maria; Salton, Loredana

2011-01-01

428

Newer diarrheal syndromes.  

PubMed

Aetiological diagnosis of protracted diarrhoea remains obscure in as many as 30% of cases despite extensive investigations. A number of newer syndromes have been recognized amongst this "idiopathic group" which includes microvillous inclusion disease, "tufting" enteropathy and epithelial dysplasia, autoimmune enteropathy and "syndromic" immunodeficiency with characteristic facial abnormalities, woolly hair and intractable diarrhea. The molecular basis of some of these syndromes has been reviewed but in only a small series of patients has the functional defect been characterized. If a case is suspected the antenatal history, family history and history of consanguinity should be sought. Extra-intestinal manifestations, presence of gut or other auto-antibodies, together with phenotypic abnormalities should be looked for. Careful light and electron microscopy is done of small bowel biopsies, although microvillous inclusion disease can be usually suspected on PAS staining. Large bowel biopsy may be needed to exclude an unsuspected microscopic colitis. The prognosis of this group of conditions is poor with an overall 50-85% mortality. Although successful gut transplantation has been reported, genetic counselling may be one of the more important aspects of the clinicians' role. PMID:11132469

Sawczenko, A; Sandhu, B K

1999-01-01

429

Autoinflammatory syndromes: diagnosis and management  

PubMed Central

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases. PMID:20813071

2010-01-01

430

Kabuki syndrome: a case report.  

PubMed

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population. PMID:17142329

Lung, Z H S; Rennie, A

2006-12-01

431

Autoinflammatory syndromes: diagnosis and management.  

PubMed

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases. PMID:20813071

De Sanctis, Sara; Nozzi, Manuela; Del Torto, Marianna; Scardapane, Alessandra; Gaspari, Stefania; de Michele, Giuseppina; Breda, Luciana; Chiarelli, Francesco

2010-01-01

432

Genetics Home Reference: Ring chromosome 14 syndrome  

MedlinePLUS

... Registry Genetic testing PubMed Recent literature Conditions > Ring chromosome 14 syndrome On this page: Description Genetic changes ... Glossary definitions Reviewed May 2009 What is ring chromosome 14 syndrome? Ring chromosome 14 syndrome is a ...

433

Genetics Home Reference: Isodicentric chromosome 15 syndrome  

MedlinePLUS

... patients and families PubMed Recent literature Conditions > Isodicentric chromosome 15 syndrome On this page: Description Genetic changes ... Glossary definitions Reviewed September 2012 What is isodicentric chromosome 15 syndrome? Isodicentric chromosome 15 syndrome is a ...

434

Genetics Home Reference: Ring chromosome 20 syndrome  

MedlinePLUS

... gov Research studies PubMed Recent literature Conditions > Ring chromosome 20 syndrome On this page: Description Genetic changes ... Glossary definitions Reviewed May 2009 What is ring chromosome 20 syndrome? Ring chromosome 20 syndrome is a ...

435

Genetics Home Reference: Dandy-Walker syndrome  

MedlinePLUS

... Research studies OMIM Genetic disorder catalog Conditions > Dandy-Walker syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed July 2012 What is Dandy-Walker syndrome? Dandy-Walker syndrome is a condition that ...

436

Genetics Home Reference: Fragile X syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Fragile X syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed April 2012 What is fragile X syndrome? Fragile X syndrome is a genetic condition ...

437

Genetics Home Reference: Smith-Magenis syndrome  

MedlinePLUS

... gov Research studies OMIM Genetic disorder catalog Conditions > Smith-Magenis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2013 What is Smith-Magenis syndrome? Smith-Magenis syndrome is a developmental ...

438

Do We Know What Causes Myelodysplastic Syndromes?  

MedlinePLUS

... myelodysplastic syndromes be prevented? Do we know what causes myelodysplastic syndromes? Some cases of myelodysplastic syndrome (MDS) ... to known risk factors , but for most, the cause is unknown. Over the past few years, scientists ...

439

Genetics Home Reference: Otopalatodigital syndrome type 1  

MedlinePLUS

... OMIM Genetic disorder catalog Conditions > Otopalatodigital syndrome type 1 On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed November 2007 What is otopalatodigital syndrome type 1? Otopalatodigital syndrome type 1 is a disorder primarily ...

440

Genetics Home Reference: 3-M syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > 3-M syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed June 2008 What is 3-M syndrome? 3-M syndrome is a disorder ...

441

Recurrent neurogenic thoracic outlet syndrome  

Microsoft Academic Search

BackgroundAlthough 90% of patients with neurogenic thoracic outlet syndrome (NTOS) experience “excellent” or “good” results after thoracic outlet decompression, recurrent symptoms may develop in certain patients.

Esteban Ambrad-Chalela; George I Thomas; Kaj H Johansen

2004-01-01

442

Ocular associations of metabolic syndrome.  

PubMed

Metabolic syndrome is a cluster of diseases including central obesity, dyslipidemia, hyperglycemia, and high blood pressure. People with metabolic syndrome have been shown to be at an increased risk of developing cardiovascular disease, beyond the risk associated with individual components of the syndrome. The association of diabetes and hypertension with retinopathy, cataract, and raised intraocular pressure is well known. This review highlights the association of metabolic syndrome, including all its components, with various ocular conditions such as retinopathy, central retinal artery occlusion, cataracts, and raised intraocular pressure. PMID:22701846

Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J

2012-03-01

443

[Prevention of the refeeding syndrome].  

PubMed

The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support. PMID:21519780

Martínez Núńez, Maria E; Hernández Muniesa, B

2010-01-01

444

The trisomy 18 syndrome  

PubMed Central

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

2012-01-01

445

Hyperventilation and exhaustion syndrome.  

PubMed

Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called 'Grounding', a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients' average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = -3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = -0.514, p < 0.01), pain (r = -.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = -0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R(2)  = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. PMID:24134551

Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

2014-12-01

446

The trisomy 18 syndrome.  

PubMed

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

Cereda, Anna; Carey, John C

2012-01-01

447

Myelodysplastic Syndromes, CSR 1975-2008  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

448

Myelodysplastic Syndromes, CSR 1975-2007  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

449

Myelodysplastic Syndromes, CSR 1975-2006  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

450

Pleuropulmonary Blastoma (PPB) Cancer Predisposition Syndrome  

Cancer.gov

A natural history study on Pleuropulmonary Blastoma (PPB) Cancer Predisposition Syndrome. The DICER1 syndrome is characterized by rare benign and malignant tumors, such as pleuropulmonary blastoma (PPB).

451

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome  

SciTech Connect

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J. [La Paz Hospital, Madrid (Spain)

1994-11-01

452

Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics.  

PubMed

The general population expects dentists to be well-versed in the typical and atypical orofacial characteristics of all potential patients. As a result, dentists must possess a reasonable amount of knowledge concerning the physical and intraoral traits associated with developmental disorders such as those associated with Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome. None of the physical, neurological, or oral anomalies discussed in this column present insurmountable barriers to providing dental care. Dental techniques and procedures performed on patients with any of these syndromes will be identical or very similar to those done on any other patient. PMID:20129888

Horbelt, Carlton V

2010-01-01

453

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.  

PubMed

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. PMID:24613506

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

454

Genes for Prader Willi syndrome\\/angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression  

Microsoft Academic Search

Genes for Prader Willi syndrome\\/Angelman syndrome are homologous to genes for fragile X syndrome. Genetic imprinting and expanded trinucleotide repeats cause mental retardation, autism and aggression.

K. M. Fischer

1996-01-01

455

Dentofacial characteristics in William's syndrome  

PubMed Central

William's syndrome is a chromosomal disorder characterized by multisystem, congenital and panethnic occurrence, characterized by a number of developmental and physical abnormalities. This case report describes the dental management of a 10-year-old male patient with William's syndrome who had multiple dental problems such as caries, periodontal disease and malocclusion. PMID:22629065

Poornima, P.; Patil, Piyusha S.; Subbareddy, V.V.; Arora, Geetika

2012-01-01

456

HANDBOOK OF MENTAL RETARDATION SYNDROMES.  

ERIC Educational Resources Information Center

THE CLINICAL SYNDROMES WHICH CONTRIBUTE TO THE PRODUCTION OF MENTAL RETARDATION ARE DESCRIBED BY SIGNS, SYMPTOMS, AND ETIOLOGY. SYNDROMES TREATED ARE (1) PRENATAL AND POSTNATAL INFECTIONS, (2) PRENATAL INTOXICATION AND ALLERGIC REACTIONS, (3) PRENATAL TRAUMA, PHYSICAL AGENTS, OR INTOXICATION, (4) BIRTH INJURIES, (5) POSTNATAL POISONS AND ALLERGIC…

CARTER, CHARLES H.

457

Cardiolipin metabolism and Barth Syndrome  

Microsoft Academic Search

Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the mitochondria, particularly in the

Kristin D. Hauff; Grant M. Hatch

2006-01-01

458

Down Syndrome = Sindrome de Down.  

ERIC Educational Resources Information Center

Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

Pueschel, S. M.; Glasgow, R. E.

459

Thyroid Function in Down Syndrome.  

ERIC Educational Resources Information Center

This study investigated the thyroid function of 181 patients (mean age 14 years) with Down's syndrome and found more thyroid dysfunctions than in the general population. Periodic thyroid hormone function tests are recommended for Down's syndrome individuals, especially as they get older. (Author/DB)

Pueschel, Siegfried M.; And Others

1991-01-01

460

Lynch Syndrome: An Updated Review  

PubMed Central

Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics. PMID:24978665

Sehgal, Rishabh; Sheahan, Kieran; O'Connell, Patrick R.; Hanly, Ann M.; Martin, Sean T.; Winter, Desmond C.

2014-01-01

461

Ellis-Van Creveld syndrome  

Microsoft Academic Search

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax,

Genevičve Baujat; Martine Le Merrer

2007-01-01

462

Tactile Sensitivity in Asperger Syndrome  

ERIC Educational Resources Information Center

People with autism and Asperger syndrome are anecdotally said to be hypersensitive to touch. In two experiments, we measured tactile thresholds and suprathreshold tactile sensitivity in a group of adults with Asperger syndrome. In the first experiment, tactile perceptual thresholds were measured. Two frequencies of vibrotactile stimulation were…

Blakemore, Sarah-Jayne; Tavassoli, Teresa; Calo, Susana; Thomas, Richard M.; Catmur, Caroline; Frith, Uta; Haggard, Patrick

2006-01-01

463

Sleep Neurophysiopathology in Down syndrome  

Microsoft Academic Search

In this paper, research on sleep characteristics of subjects with Down syndrome is briefly reviewed and some new data on autonomic function during sleep are reported. Subjects with Down syndrome show a significant reduction in percentage of REM sleep (probably more evident in the most severely retarded subjects), a marked delay in first REM latency and a statistically significant decrease

Raffaele Ferri; Lilia Curzi-Dascalovad; Stefano Del Gracco; Maurizio Elia; Salvatore Pettinato; Sebastiano A. Musumeci

1998-01-01

464

Reaching Kids with Asperger's Syndrome  

ERIC Educational Resources Information Center

This article deals with Asperger's syndrome. This disorder has been described in terms of social deficits with cognitive skills remaining preserved in the afflicted individual. The essential characteristics of children with Asperger's Syndrome are that they possess qualitative impairment in social relationships, impairment in verbal and nonverbal…

Phemister, Art

2005-01-01

465

Genetic heterogeneity of Alport syndrome  

Microsoft Academic Search

Genetic heterogeneity of Alport syndrome. Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at least one affected individual. The proportion of affected offsprings of affected females does not significantly differ from

Josué Feingold; Etienne Bois; Agnčs Chompert; Michel Broyer; Marie-Claire Gubler; Jean-Pierre Grünfeld

1985-01-01

466

POLLINATION SYNDROMES AND FLORAL SPECIALIZATION  

Microsoft Academic Search

? Abstract Floral evolution has often been associated with differences in pollina- tion syndromes. Recently, this conceptual structure has been criticized on the grounds that flowers attract a broader spectrum,of visitors than one might expect based on their syndromes,and that flowers often diverge without excluding one type of pollinator in favo ro fanother. Despite these criticisms, we show that pollination

Charles B. Fenster; W. Scott Armbruster; Paul Wilson; Michele R. Dudash; James D. Thomson

2004-01-01

467

The metabolic syndrome in women  

Microsoft Academic Search

The metabolic syndrome is estimated to be present in 47 million US residents with a similar age-adjusted prevalence in men (24%) and women (23%). The consideration of various metabolic risk factors as a single entity in the metabolic syndrome provides clinicians with a tool by which they can identify a population at increased risk for type 2 diabetes mellitus and

Katherine Koruda; Ellen W Seely; Rhonda Bentley-Lewis

2007-01-01

468

Computed tomography of Sipple syndrome.  

PubMed

The computed tomographic (CT) findings of pheochromocytoma, adrenal medullary hyperplasia, and medullary thyroid carcinoma in a patient with Sipple syndrome are presented. The CT finding of diffuse enlargement of one or both adrenal glands in a patient with clinical and laboratory evidence of pheochromocytoma should raise the suspicion of adrenal medullary hyperplasia and Sipple syndrome. PMID:6140274

Radin, D R; Rosenstein, H; Boswell, W D; Ralls, P W; Lundell, C; Halls, J M

1984-02-01

469

Congenital contractural arachnodactyly (Beals syndrome)  

Microsoft Academic Search

Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled

Ergül Tunçbilek; Yasemin Alanay

2006-01-01

470

Noonan's Syndrome and Autoimmune Thyroiditis  

ERIC Educational Resources Information Center

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

Vesterhus, Per; Aarskog, Dagfinn

1973-01-01

471

The DiGeorge syndrome  

Microsoft Academic Search

This study describes clinical signs and symptoms in 16 patients with the DiGeorge syndrome (DGS). Diagnosed on the basis of typical facial stigmata, a broad spectrum of severity is seen with respect to congenital heart disease, hypoparathyroidism and immunologic parameters. A simple index of severity is introduced that clearly differentiates complete forms of the syndrome (cDGS) with poor prognosis from

W. Miiller; H. H. Peter; M. Wilken; H. Jiippner; H. C. Kallfelz; H. P. Krohn; K. Miller; C. H. L. Rieger

1988-01-01

472

Antenatal Bartter syndrome.  

PubMed

Antenatal Bartter syndrome is characterized by severe polyhydramnios in mother leading to premature delivery. Antenatal treatment has proven effective to prevent these problems. Postnatally newborns suffer from recurrent episodes of severe dehydration and electrolyte imbalance which can lead to fatal outcome. These manifestations are likely to be overlooked and missed under the umbrella of diagnosis of prematurity. This premature newborn with antenatal polyhydramnios had severe manifestations of polyuria, recurrent dehydration, electrolyte derangements and metabolic alkalosis. She was managed accordingly but unfortunately could not survive beyond 4 weeks. PMID:24906263

Afzal, Muhammad; Khan, Ejaz A; Khan, Wisal A; Anwar, Viqas; Yaqoob, Asma; Rafiq, Shahid; Azam, Shaheena

2014-05-01

473

Tics and tourette syndrome.  

PubMed

Tourette syndrome is a childhood onset neurodevelopmental disorder characterized by multiple motor and vocal tics. Although many youth experience attenuation or even remission of tics in adolescence and young adulthood, some individuals experience persistent tics, which can be debilitating or disabling. Most patients also have 1 or more psychiatric comorbid disorders, such as attention-deficit/hyperactivity disorder or obsessive-compulsive disorder. Treatment is multimodal, including both pharmacotherapy and cognitive-behavioral treatment, and requires disentanglement of tics and the comorbid symptoms. PMID:25150562

Shaw, Zoey A; Coffey, Barbara J

2014-09-01

474

Cri du Chat syndrome  

Microsoft Academic Search

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm\\u000a of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a\\u000a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics,\\u000a and severe psychomotor and mental retardation. Malformations,

Paola Cerruti Mainardi

2006-01-01

475

Battered wife syndrome.  

PubMed

Battered wife syndrome is a symptom complex of physical and psychologic abuse of a woman by her husband. Although it may occur in up to 10% of Canadian women, it largely goes unrecognized. Such women often present with vague somatic complaints, such as headache, insomnia and abdominal pain. Thus, the diagnosis can usually only be made by asking nonthreatening open-ended questions. Most women remain with their husbands because they are afraid of them. Hence, successful treatment usually depends on the woman's leaving her husband and obtaining help in the development of a new self-concept. PMID:6697278

Swanson, R W

1984-03-15

476

[Lymphohistiocytic activation syndrome (LHAS)].  

PubMed

Lymphohistiocytic activation syndrome (LHAS) is related to inappropriate stimulation of macrophage cells in bone marrow and lymphoid system. LHAS combines the non-specific clinical signs (fever, poor general condition, hepatosplenomegaly, lymphadenopathy) and suggestive biological elements (bi-or pancytopenia, abnormal liver function, coagulopathy, increased LDH, ferritin and triglycerides). The diagnosis of SALH remains an emergency every clinician should discuss before any febrile cytopenia. The etiology of LHAS is still obscure, but recent advances in the genetic study of familial forms provide some essential elements in understanding. PMID:24440730

Berrady, R; Bono, W

2014-01-01

477

Dystonia-plus syndromes.  

PubMed

Dystonia-plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features and gene mutations can be detected frequently. Symptomatic dystonias and complex neurodegenerative diseases with dystonia as part of the clinical presentation are excluded from this category. At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric-onset, neurometabolic disorder with two different modes of inheritance: in its autosomal-dominant form, heterozygous mutations of GTP-cyclohydrolase I (GCH1, DYT5) cause DRD with reduced penetrance and excellent and lasting response to levodopa. Autosomal-recessive (AR) forms of DRD are caused by homozygous or compound heterozygous mutations of the tyrosine hydroxylase (TH) or the sepiapterin reductase (SPR) gene. In AR-DRD, the phenotype is generally more severe including cognitive deficits and developmental delay. Diagnosis can be confirmed by analysis of CSF pterine metabolites. Alternatively, comprehensive genetic testing yields causative mutations in up to 80% of patients. Myoclonus-dystonia (M-D) is caused by heterozygous mutations of the epsilon-sarcoglycan gene (SGCE). Dystonia is generally only mild to moderate, and 'lightning-like' myoclonic jerks occur rarely at rest and can be triggered by complex motor tasks like writing and drawing. Both features together with an age at onset below 25 years strongly predict SGCE mutation in M-D and differentiate this genetic disease from other 'jerky' dystonias. The combination of dystonia and parkinsonism can only be rarely observed in non-degenerative syndromes. Besides DRD, two additional syndromes have been classified. Rapid-onset dystonia-parkinsonism (RPD, DYT12) is a rare disorder with an abrupt onset of symptoms over minutes to days, prominent bulbar involvement and parkinsonism with a lack of response to levodopa. Patients with this rare phenotype should be screened for mutation in the Na(+)/K(+) ATPase alpha3-subunit (ATP1A3) gene, even if family history is negative. Recently, a novel form of dystonia-parkinsonism (DYT16) has been found to be linked to mutations in the PRKRA gene, whose relation to basal ganglia disorders is yet unknown . PMID:20590807

Asmus, F; Gasser, T

2010-07-01

478

The Brugada syndrome revisited.  

PubMed

The Brugada syndrome is a rare but well-defined cause of sudden cardiac death. The key underlying abnormality is a decrease in net depolarising current due to a genetic defect, though recent evidence also implicates structural abnormalities in some patients. Diagnosis requires a Brugada-type ECG as well as typical clinical features: such clinical considerations are currently key in guiding risk stratification and hence management. Whilst pharmacological therapies are under investigation, the only intervention with a robust evidence base remains insertion of an implantable cardioverter defibrillator. Further research will be required to allow more effective risk stratification and hence more rational therapy. PMID:24332084

Mashar, Meghavi; Kwok, Andrew J; Pinder, Richard; Sabir, Ian

2014-07-01

479

Shaken baby syndrome.  

PubMed

A 35-day-old male infant with presumed shaken baby syndrome is reported. This first born child to mother educated upto middle school and father tailor by occupation was brought from a remote village 180 kms away from JIPMER. Poor feeding, focal clonic seizures were the initial symptoms. The fundus examination revealed fresh preretinal and vitreous hemorrhages. CT Brain showed right sided subdural hemorrhage with subarachnoid extension and midline shift. He had a normal platelet count and coagulation profile. The sensorium deteriorated and infant expired despite adequate ventilatory support. PMID:19904512

Arun Babu, T; Venkatesh, C; Mahadevan, S

2009-09-01

480

Understanding shaken baby syndrome.  

PubMed

Health care professionals involved in the care of infants are in an ideal position to identify and to educate families, the public, and other health care professionals about the risk factors, dangers, and consequences of infant shaking. The purpose of this article is to review the incidence, biomechanics, risk factors, clinical presentation, diagnosis, and prognosis of shaken baby syndrome (SBS), as well as to encourage involvement in SBS prevention through the use of a family teaching tool. Education is essential to decrease the incidence, morbidity, and mortality of SBS. PMID:15138993

Carbaugh, Suzanne Franklin

2004-04-01

481

Silent sinus syndrome.  

PubMed

Silent sinus syndrome is defined as a spontaneous and progressive enophthalmos and hypoglobus with hypoplasia of the maxillary sinus and resorption of the orbital floor. It is caused by atelectasis of the maxillary sinus in the presence of ipsilateral chronic hypoventilation of the sinus. The problem may be idiopathic, but the term is now also used to describe cases that follow operation or trauma. We describe three cases, each with a different aetiology, and discuss the clinical and radiographic evaluation of the condition, theories regarding its pathophysiology, and surgical correction. PMID:22051178

Cobb, Alistair R M; Murthy, Rachna; Cousin, Gary C S; El-Rasheed, Adel; Toma, Abbad; Uddin, Jimmy; Manisali, Mehmet

2012-09-01

482

Recurrent tarsal tunnel syndrome.  

PubMed

Recurrence of tarsal tunnel syndrome after surgery may be due to inadequate release, lack of understanding or appreciation of the actual anatomy involved, variations in the anatomy of the nerve(s), failure to execute the release properly, bleeding with subsequent scarring, damage to the nerve and branches, persistent hypersensitivity of the nerves, and preexisting intrinsic damage to the nerve. Approaches include more thorough release, use of barrier materials to decrease adherence of the nerve to surrounding tissues to avoid traction neuritis, excisions of neuromas using conduits, and consideration of nerve stimulators and systemic medications to deal with persistent neural pain. PMID:25129355

Gould, John S

2014-09-01

483

Bilateral Subclavian Steal Syndrome  

PubMed Central

Bilateral subclavian steal syndrome is a rare condition. It is usually due to reversal of vertebral blood flow in the setting of bilateral proximal subclavian or left subclavian plus innominate artery severe stenosis or occlusion. This finding may cause cerebral ischemia related to upper extremities exercise. We report a case of bilateral subclavian steal secondary to total occlusion of the innominate and left subclavian arteries in a patient who presented with cardiomyopathy and flow reversal in the right carotid and bilateral vertebral arteries. PMID:24804108

Amini, Reza; Gornik, Heather L.; Gilbert, Leslie; Whitelaw, Sue; Shishehbor, Mehdi

2011-01-01

484

Battered wife syndrome.  

PubMed Central

Battered wife syndrome is a symptom complex of physical and psychologic abuse of a woman by her husband. Although it may occur in up to 10% of Canadian women, it largely goes unrecognized. Such women often present with vague somatic complaints, such as headache, insomnia and abdominal pain. Thus, the diagnosis can usually only be made by asking nonthreatening open-ended questions. Most women remain with their husbands because they are afraid of them. Hence, successful treatment usually depends on the woman's leaving her husband and obtaining help in the development of a new self-concept. PMID:6697278

Swanson, R. W.

1984-01-01

485

Postpubertal cherubism with Noonan syndrome.  

PubMed

Cherubism is a self limiting, autosomal dominant, fibro-osseous lesion of the maxillo facial region affecting the young adults. The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported. The affected subjects usually present with simultaneous, bilateral swellings of the maxillae and/or mandible, premature loss of primary teeth, malocclusion due to disturbed eruption pattern of permanent teeth and a characteristic chubby faced angelic eyed appearance. This usually presents as an isolated finding, however, it can exist in association with syndromes like Noonan's syndrome, Jaffe syndrome, Gardener syndrome and Ollier's disease. Treatment is focused on the exact genetic diagnosis and management of symptomatic conditions utilizing cosmetic surgery and orthodontics. Genetic counselling of the affected families may help to decrease its incidence. This report presents a rare case of cherubism with associated features of Noonan syndrome. PMID:24718001

Ahmed, Bilal; Amin, Muhammad

2014-03-01

486

[Tooth eruption disturbances and syndromes].  

PubMed

In the tooth eruption mechanism, various disturbances can appear as a result of gene mutations, a consequence of which can be that tooth eruption does not occur. There are 5 syndromes which involve the complete failure of several or even all teeth to erupt, specifically: cleidocranial dysplasia, Gardner's syndrome, osteopetrosis, mucopolysaccharidosis and GAPO syndrome. Some are very rare and will seldom be encountered in a dental practice, but they show how vulnerable the tooth eruption mechanism is. Dentists are generally the ones who identify a tooth eruption problem in a patient. Since syndromes can be associated with other disorders, additional investigation by a clinical geneticist is always important when a syndrome is suspected. PMID:24881265

Oosterkamp, B C M; Ockeloen, C W; Carels, C E L; Kuijpers-Jagtman, A M

2014-04-01

487

Carpal tunnel syndrome in children.  

PubMed

Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed in 10 patients. In our group of 11 children, carpal tunnel syndrome was idiopathic in only 1 case. In the remaining subjects, it was secondary to congenital bone anomaly (6), hypothyroidism (2), or myopathic contractures (1). In 1 case, metabolic workup revealed an underlying mucopolysaccharidosis. Our results confirm that idiopathic carpal tunnel syndrome is rare in children. Hand clumsiness and thenar hypoplasia rather than sensory complaints are the presenting symptoms. Whenever carpal tunnel syndrome is diagnosed in a child, a thorough differential diagnosis should be made because of the secondary nature of this disease in most pediatric patients. PMID:24084629

Potulska-Chromik, Anna; Lipowska, Marta; Gawel, Malgorzata; Ryniewicz, Barbara; Maj, Edyta; Kostera-Pruszczyk, Anna

2014-02-01

488

Tremor in 48,XXYY syndrome.  

PubMed

The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism. PMID:19705466

Tartaglia, Nicole; Borodyanskaya, M; Borodyanskya, Mariya; Hall, Deborah A

2009-10-15

489

MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome  

SciTech Connect

Although it is true that MIDAS syndrome, Aicardi syndrome and Goltz syndrome show the same transmission, representing X-linked dominant traits with lethality of hemizygote male embryos, and have a number of anomalies such as defects of the eyes or brain in common, it should be noted that MIDAS syndrome and Goltz syndrome have so far never occurred as alternating phenotypes within the same family. In addition, the observation of MIDAS syndrome in a mother and her daughter lends additional support to the notion that this syndrome represents a distinct entity. 3 refs., 4 figs.

Muecke, J. [Saarland Univ. of Homburg (Germany); Happle, R. [Univ. of Marburg (Germany); Theile, H. [Univ. of Leipzig (Germany)

1995-05-22

490

National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium  

E-print Network

National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium Linking Syndrome Society #12;Today's Presentation: Down Syndrome Advocacy, Action & System Change · Why Advocate · Down syndrome research policy landscape · How to advocate and get involved in our efforts

491

Brown's syndrome: diagnosis and management.  

PubMed Central

PURPOSE: To better understand the various etiologies of Brown's syndrome, define specific clinical characteristics of Brown's syndrome, describe the natural history of Brown's syndrome, and evaluate the longterm outcome of a novel surgical procedure: the silicone tendon expander. Also, to utilize a computer model to simulate the pattern of strabismus seen clinically with Brown's syndrome and manipulate the model to show potential surgical outcomes of the silicone tendon expander. METHODS: Charts were reviewed on patients with the diagnosis of Brown's syndrome seen at a children's hospital ophthalmology clinic from 1982 to 1997, or seen in the author's private practice. Objective fundus torsion was assessed in up gaze, down gaze, and primary position in 7 Brown's syndrome patients and in 4 patients with primary superior oblique overaction. A fax survey was taken of members of the American Association of Ophthalmology and Strabismus (AAPOS) listed in the 1997-1998 directory regarding their results using the silicone tendon expander procedure for the treatment of Brown's syndrome. A computer model of Brown's syndrome was created using the Orbit 1.8 program by simulating a shortened superior oblique tendon or by changing stretch sensitivity to create an inelastic muscle. RESULTS: A total of 96 patients were studied: 85 with Brown's syndrome (38 with congenital and 47 with acquired disease), 6 with masquerade syndromes, 1 with Brown's syndrome operated on elsewhere, and 4 with primary superior oblique overaction in the torsion study. Three original clinical observations were made: 1. Significant limitation of elevation in abduction occurs in 70% of Brown's syndrome cases surgically verified as caused by a tight superior oblique tendon. Contralateral pseudo-inferior oblique overaction is associated with limited elevation in abduction. 2. Traumatic Brown's syndrome cases have larger hypotropias than nontraumatic cases (P < .001). There was no significant hypotropia in primary position in 56 (76%) of 74 congenital and nontraumatic acquired cases despite severe limitation of elevation. 3. Of 7 patients with Brown's syndrome, 6 had no significant fundus torsion in primary position, but had significant (+2 to +3) intorsion in up gaze. Spontaneous resolution occurred in approximately 16% of acquired nontraumatic Brown's syndrome patients. The silicone tendon expander was used on 15 patients, 13 (87%) were corrected with 1 surgery and 14 (93%) with 2 surgeries. The only failure was a Brown's syndrome not caused by superior oblique pathology. Five of the silicone tendon expander patients had at least 5 years follow-up (range, 5 to 11 years). Four (80%) of the 5 patients had an excellent outcome with 1 surgery, final results graded between 9 and 10 (on a scale of 1-10, 10 is best). The fifth patient had a consecutive superior oblique paresis and a good outcome after a recession of the ipsilateral inferior oblique muscle. The AAPOS survey had a mean outcome score of 7.3, with 65% between 8 and 10. There were 9 (6%) complications reported: 4 related to scarring and 5 extrusions of the implant. Three of the 5 extrusions were reported from the same surgeon. The computer model of an inelastic superior oblique muscle-tendon complex best simulated the motility pattern of Brown's syndrome with severe limitation of elevation in adduction, mild limitation of elevation in abduction, minimal hypotropia in primary position, no superior oblique overaction, and intorsion in up gaze. CONCLUSIONS: The presence of mild to moderate limitation of elevation in abduction is common, and its presence does not eliminate the diagnosis of Brown's syndrome. The majority of Brown's syndrome patients have a pattern of strabismus consistent with an inelastic superior oblique muscle-tendon complex that does not extend, but can contract normally; not the presence of a short tendon. The presence of inelastic or tethered superior oblique muscle-tendon can be diagnosed without forced duction testing by observing the pattern of strabismus including torsion. Because of

Wright, K W

1999-01-01

492

Papillon-Lefévre syndrome.  

PubMed

The goal of periodontal therapy has always been regeneration of the lost tissues. However, conventional periodontal therapy has not always been successful in achieving regeneration, especially when it is part of a syndrome. This case report involves a 13-year old male patient with the chief complaint of mobile teeth for over 3 months. His dental history revealed early loss of primary dentition, around 3-4 years of age and that he noticed mobility of permanent incisors and molars at 9-10 years. Keratotic skin lesions on the palms and soles were present since the age of 3 years. Full mouth intra-oral periapical radiographs showed extensive bone loss upto apical thirds of the teeth and an orthopantamograph showed "floating in air" appearance. Further, a lateral cephalogram was taken to rule out any calcifications of the duramater. The case was provisionally diagnosed to be Papillon Lefévre syndrome. A conventional polymerase chain reaction assay was also done to assess the virulence genes in aggressive periodontitis. Though the management of PLS involves the regular phases of periodontal therapy, namely, etiotropic, surgical, restorative and maintenance phases, the complete esthetic and functional rehabilitation also involves other specialities especially prosthodontic and dermatologic and later an implantologist. After appropriate periodontal and prosthodontic management, the patient has been followed up for over a year and is maintaining in a stable condition. PMID:22144846

Veerabahu, Bagavad Gita; Chandrasekaran, Sc; Alam, Mohammed Nazish; Krishnan, Mahalakshmi

2011-09-01

493

Down syndrome and consanguinity  

PubMed Central

Background: Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome. The aim of the current survey was to investigate the frequency of parental consanguinity, maternal age in the patients with DS. Materials and Methods: This study was conducted on 38 consecutive patients with clinically and laboratory confirmed DS who referred to the genetic lab of a referral University Hospital. The G-banding method for karyotyping was employed. Results: The patients were 21 males and 17 females within the age of 16 days to 28 years old. Free trisomy (92.1%, n = 35) was the most common chromosomal abnormality. The frequency of DS was higher among the non-consanguine marriages (71.1%) in comparison with the consanguine marriages (28.9%). Mean age of the mothers in the consanguine marriages (mean = 27.1 ± 6.3) was lower than in the non-consanguine marriages (mean = 31.1 ± 7.7). Conclusion: Higher frequency of DS among the non-consanguine marriages in comparison with the consanguine marriages, may suggest that DS diagnostic tests might be done on all embryos regardless of the parents’ familial relationship. PMID:24523787

Rezayat, Amir Akhavan; Nazarabadi, Mohammad Hassanzadeh; Andalibi, Mohammad Sobhan Sheikh; Ardabili, Hossein Mohaddes; Shokri, Maryam; Mirzaie, Salmeh; Jarahi, Lida

2013-01-01

494

Cerebropulmonary dysgenetic syndrome.  

PubMed

Ventilatory treatment of neonatal respiratory distress often results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3. Association of this condition with other severe disorders in premature newborns has not heretofore been reported. A neonatal autopsy included an in vivo whole blood sample for genetic testing. Autopsy revealed severe interstitial pulmonary fibrosis at age 8 days with heterozygotic mutation p.E292V of ABCA3 and severe dystrophic retardation of cerebral cortex and cerebellum. Subsequently, 1300 archival neonatal autopsies, 1983-2006, were reviewed for comparable concurrent findings and bronchopulmonary dysplasia or retarded cerebral dystrophy lacking the other principal feature of this syndrome. Archival review revealed four similar cases and eight less so, without gene analysis. Further review for bronchopulmonary dysplasia revealed 59 cases, 1983-2006. Several other examples of similar retarded migration of germinal matrix and underdevelopment of cortical mantle, without pulmonary lesions of this type, were identified. The determination of an ABCA3 mutation in one case of severe pulmonary fibrosis with significant dystrophy of the brain and the identification of four highly similar archival cases and eight others with partial pathological findings supports the designation of an independent disorder, here referred to as the cerebropulmonary dysgenetic syndrome. PMID:18603241

Shanklin, D Radford; Mullins, Amanda C; Baldwin, Heather S

2008-10-01

495

Language and Literacy in Turner Syndrome  

ERIC Educational Resources Information Center

Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

Murphy, Melissa M.

2009-01-01

496

Frey's syndrome after condylar fracture: case report  

Microsoft Academic Search

Frey's syndrome is the occurrence of hyperesthesia, flushing and warmth or sweating over the distribution of the auriculotemporal nerve and\\/or greater auricular nerve while eating foods that produce a strong salivary stimulus. Frey's syndrome is also known as auriculotemporal syndrome and gustatory sweating. We present a case of Frey's syndrome after a condylar fracture and its treatment by internal rigid

Cassio Edvard Sverzut; Alexandre Elias Trivellato; Elis Cristina; Souza SERRA; Emanuela Prado FERRAZ

2004-01-01

497

LANGUAGE AND COMMUNICATION IN FRAGILE X SYNDROME  

E-print Network

syndromes (e.g., Down syndrome, autism). We also consider problems in language within the broader contextLANGUAGE AND COMMUNICATION IN FRAGILE X SYNDROME Leonard Abbeduto1,2* and Randi Jenssen Hagerman3 problems of individuals with fragile X syndrome (FXS). FXS is a common genetic disorder resulting from

Nguyen, Danh

498

Tourette Syndrome and Comorbid Pervasive Developmental Disorders  

Microsoft Academic Search

We examined the rates of comorbid pervasive developmental disorders in participants with Tourette syndrome. We used 7288 participants from the Tourette Syndrome International Database Consortium Registry. We found 334 (4.6%; 1 of every 22 participants) with Tourette syndrome had a comorbid pervasive developmental disorder. In participants with Tourette syndrome and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities

Larry Burd; Qing Li; Jacob Kerbeshian; Marilyn G. Klug; Roger D. Freeman

2009-01-01

499

Simultaneous occurrence of duane retraction syndrome with marfan syndrome.  

PubMed

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5-10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental. PMID:22606474

Kothari, Mihir; Manurung, Florence; Mithiya, Bhavesh

2011-01-01

500

Sweet's syndrome with idiopathic thrombocythemia.  

PubMed

Diagnosis of paraneoplastic skin syndromes associating neoplastic processes is assumed as the crucial aspect of dermatological practice. Knowledge of clinical findings of dermatoses suggesting coincidence of malignant proliferative processes facilitates diagnostic and therapeutic procedures. We would like to present a case of Sweet's syndrome, qualified for comparative paraneoplastic skin syndromes. Sweet's syndrome, acute, febrile neutrophilic dermatosis, was first described by Robert Douglas Sweet in 1964 as a disorder characterized by fever, skin lesions of erythematous-infiltrative character, leukocytosis with neutrophilia and dense infiltrations of dermis by mature neutrophils. Sweet's syndrome aetiology is not fully understood, although cytokine abnormalities suggest that Th1 lymphocytes play an important role in pathogenesis of the dermatosis. Factors inducing Sweet's syndrome include: haematopoietic hyperplasia; neoplasms: genitourinary, breast, gastrointestinal; infections of the respiratory and alimentary system; inflammatory bowel diseases; drugs; pregnancy and vaccinations. Systemic corticosteroids are the "gold standard" of Sweet's syndrome treatment; potassium iodide or colchicine may also be used. Indomethacin, clofazimine, cyclosporine A and sulfones are the second-line drugs. PMID:24683399

Kaszewski, Sebastian; Czajkowski, Rafa?; Protas-Drozd, Franciszka; Placek, Waldemar; Jakubowski, Sebastian

2014-02-01