Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. [orpha.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.it]

Management is dependent on presentation, severity of symptoms and the overall health of the child. [thefreelibrary.com]

Katie Schoenman, DO Presentation(s) University of Hawaii Medicine Grand Rounds. "A Gift for All Seasons" Honolulu. December 19, 201 Poster Presentation(s) A rare case: Radial vein thrombosis following radial arterial access. ACC. 2018. Orlando. [hawaiiresidency.org]

• Marfanoid Habitus

  A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula [findzebra.com]

  OLS > Orphanet Rare Disease Ontolog ORDO > Orphanet:2464 http://www.orpha.net/ORDO/Orphanet_2464 Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. [orpha.net]

  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006;1:26. [br.123dok.com]

  BASIC INFORMATION Sign in to get new information about "Marfanoid syndrome, De Silva type" New changes, new therapies, new information and news Definition Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with [retkebolesti.com]

• Inguinal Hernia

  33 HP:0000541 5 bladder diverticulum 33 HP:0000015 6 colonic diverticula 33 HP:0002253 7 femoral hernia 33 HP:0100541 8 small bowel diverticula 33 HP:0002256 Symptoms via clinical synopsis from OMIM: 58 Abdomen: inguinal hernia femoral hernia G U: bladder [malacards.org]

  Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia). [ghr.nlm.nih.gov]

  hernia-advanced bone age syndrome 2 Cases 2464 Marfanoid syndrome, De Silva type 6 Cases 300912 Marginal zone lymphoma 7.0 P * 559 Marinesco-Sjögren syndrome 200 Cases 560 Marshall syndrome 17 Cases 561 Marshall-Smith syndrome 33 Cases 98292 Mastocytosis [azkurs.org]

  Case Presentation : We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias [pubfacts.com]

• Lymphedema

  […] septal defects-facial changes syndrome 5 Cases 86914 Lymphedema-cerebral arteriovenous anomaly syndrome 5 Cases 275761 Lysosomal acid lipase deficiency 2.0 P * 397612 Macrocephaly-developmental delay syndrome 9 Cases 210548 Macrocephaly-intellectual [azkurs.org]

• Mitral Valve Prolapse

  A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula [findzebra.com]

  valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). [rarediseases.info.nih.gov]

  Redundant cusps and chordae tendineae may lead to mitral valve prolapse or regurgitation; mitral valve prolapse may cause a systolic click and a late systolic murmur or, in severe cases, a holosystolic murmur. [merckmanuals.com]

  The structure and function of valves ; Disorders of the valves ; Causes of valve disease: Aortic valve disease, Pulmonary valve disease, Mitral valve prolapse, Marfan syndrome, Ebstein's anomaly, Rheumatic heart disease, Infective endocarditis, Connective [link.sccl.org]

  […] atresia * Mitral regurgitation deafness skeletal anomalies * Mitral valve prolapse, familial, autosomal dominant * Mitral valve prolapse, familial, X linked * Mitral valve prolapse * Miura syndrome * Mixed connective tissue disease * Mixed Müllerian [en.academic.ru]

• Prolapse

  A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula [findzebra.com]

  Redundant cusps and chordae tendineae may lead to mitral valve prolapse or regurgitation; mitral valve prolapse may cause a systolic click and a late systolic murmur or, in severe cases, a holosystolic murmur. [merckmanuals.com]

  Living with the Disease Research Disease at a Glance Symptoms Causes Summary A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse [rarediseases.info.nih.gov]

  Infant morbidity, as related to cardiovascular disease, is due to progression of mitral valve prolapse to mitral regurgitation and often occurs in conjunction with tricuspid prolapse and regurgitation. [emedicine.medscape.com]

  […] surgery, Lifestyle changes, Coronary artery spasm, Follow-up treatment -- Diseases of the heart valves : The structure and function of valves ; Disorders of the valves ; Causes of valve disease: Aortic valve disease, Pulmonary valve disease, Mitral valve prolapse [link.sccl.org]

• Strabismus

  Human phenotypes related to Diverticulosis of Bowel, Hernia, and Retinal Detachment: 33 (show all 8) # Description HPO Frequency HPO Source Accession 1 inguinal hernia 33 HP:0000023 2 strabismus 33 HP:0000486 3 myopia 33 HP:0000545 4 retinal detachment [malacards.org]

  J Pediatr Ophthalmol Strabismus 1986;23:137-140.21. Mingers AM, Heimburger N, Zeitler P, Kreth HW,Schuster V. Homozygous type I plasminogen de-ficiency. Semin Thromb Hemost 1997;23:259-269.22. Chen S, Wishart M, Hiscott P. [dokumen.tips]

  Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia. [11] Cardiovascular system [ edit ] The most serious signs and symptoms associated with Marfan [en.wikipedia.org]

• Suggestibility

  Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. [orpha.net]

  However, features suggestive of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome must be excluded and appropriate alternative genetic testing (TGFBR1/2, SMAD3, TGFB2, TGFB3, collagen biochemistry, COL3A1, and other [marfan.org]

  The results suggest that MCPP can be used effectively as an auxiliary tool in the nosology of these conditions and, because there is no change in MCPP with age, can be helpful in early diagnosis. [oasisbr.ibict.br]

• Akinesia

  […] of radius * Microphtalmos bilateral colobomatous orbital cyst * Microphthalmia camptodactyly mental retardation * Microphthalmia cataract * Microphthalmia diaphragmatic hernia Fallot * Microphthalmia mental deficiency * Microphthalmia microtia fetal akinesia [en.academic.ru]

  […] dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [thefullwiki.org]

  […] of published cases or families 69078 Liposarcoma 1.0 I * 401862 Lipoyl transferase 1 deficiency 2 Cases 98955 Lisch epithelial corneal dystrophy 36 Cases 171680 Lissencephaly due to TUBA1A mutation 15 Cases 86821 Lissencephaly type 3-familial fetal akinesia [azkurs.org]

  […] of radius Microphobia Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [academickids.com]

  […] bilateral colobomatous orbital cyst Microphthalmia Microphthalmia, Lentz type Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia [ipfs.io]

You arranged expedited etiologic workup, including carotid duplex and transcranial Doppler ultrasound, which was initially unrevealing. [ebmedicine.net]

Diagnostic workup of metastatic head and neck squamous cell carcinoma of unknown primary site has traditionally included CT and/or MRI imaging and endoscopic biopsies. [235.manageable.us]

treatment for CHF -- Invasive procedures for CHF -- Surgical treatment for CHF -- End-of-life care -- Ch. 6. [laurel.lso.missouri.edu]

Disorders of the heart muscle and congestive heart failure : Systolic dysfunction: Causes, Symptoms, Diagnosis ; Diastolic dysfunction: Causes, Symptoms, Diagnosis ; Treatment of congestive heart failure: Treatment strategy, Medical treatment for [link.sccl.org]

68: Treatment Strategy. 69: Medical Treatment for CHF. 70: Invasive Procedures for CHF. 71: Surgical Treatment for CHF. 72: End-of-Life Care. 73: Disorders of Cardiac Rhythm. 74: Atrial Arrhythmias. 75: Atrial Premature Beats. 76: Atrial Tachycardia [cengage.com]

Chapters describe the history of our knowledge of the heart, its anatomical structure and function, various disease states, and the treatments for each major disease. Dr. [library.kirtland.edu]

Dec 23rd, 2015 - There are a limited number of approved treatments for papulopustular rosacea (PPR) and remission is difficult to maintain after successful treatment. [allmedx.com]

Prognosis - Marphanoid syndrome type De Silva Not supplied. Treatment - Marphanoid syndrome type De Silva Not supplied. Resources - Marphanoid syndrome type De Silva Not supplied. [checkorphan.org]

Prognosis is related to aortic risk of dissection following aneurysm. MFS clinical variability is notable, for age of onset as well as severity and number of clinical manifestations. [readbyqxmd.com]

It has worse prognosis than EDSH, since it can produce arterial ruptures as well as organ ruptures (lung, arteries, colon, uterus). It can produce arrhythmias and even sudden death. [reumatologia-dr-bravo.cl]

Prognosis for long-term survival ameliorates ... [c4.tantalize.us]

Prognosis [ edit ] Prior to modern cardiovascular surgical techniques and drugs such as losartan, and metoprolol, the prognosis of those with Marfan syndrome was not good: a range of untreatable cardiovascular issues was common. [en.wikipedia.org]

Full title Marfanoid syndrome, De Silva type Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling Therapy Clinical [retkebolesti.com]

You arranged expedited etiologic workup, including carotid duplex and transcranial Doppler ultrasound, which was initially unrevealing. [ebmedicine.net]

Etiology is unknown and no definitive oral characteristics have been established. The objective of this case report is to describe the oral and radiographic findings of a 14-year-old male with Weaver syndrome. [pubfacts.com]

[…] several other features of LFS can be found with Marfan syndrome, a connective tissue disorder. [4] The finding of aortic root dilation in both disorders suggests that a mutation in an unspecified connective tissue regulating gene may contribute to the etiology [en.wikipedia.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.it]

Full title Marfanoid syndrome, De Silva type Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling Therapy Clinical [retkebolesti.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Molecular epidemiology of adenoviruses: globaldistribution of adenovirus 7 genome types. J Clin Microbiol 21:403408.Adenovirus and Smith-Lemli-Opitz Syndrome 69 [documents.tips]

Providing a much-needed update to the literature, Adrenal Disorders: Physiology, Pathophysiology and Treatment will be an important resource for both academic and clinical endocrinologists working with the adrenal glands and managing patients with adrenal [link.springer.com]

Recent advances in our understanding of the pathophysiological mechanisms involved in the initiation and perpetuation of seizure activity have revealed that status epilepticus is a dynamic and evolving process. [235.manageable.us]

Systemic Lupus Erythematosus Harvard-MIT Division of Health Sciences and Technology HST.021: Musculoskeletal Pathophysiology, IAP 2006 Course Director: Dr. Dwight R. [docplayer.net]

Although the pathophysiology of pain is well described and the profound impact of dermatological pain on patients' quality of life is well appreciated, there is an identified need for clear therap... [allmedx.com]

Recent advances in the understanding of the underlying pathophysiology of aortic dissection have led to more patients being considered at substantial risk of complications and, therefore, in need of endovascular intervention rather than only medical or [imperial.ac.uk]

The least expensive and most logical way to prevent heart disease is to spread knowledge about it. [library.kirtland.edu]

Diagnosis -- Smoking -- High blood pressure -- Inactivity and obesity -- Diabetes -- Contributory risk factors for coronary heart disease -- Prevention of CVD -- Primary prevention of heart disease -- Secondary prevention of hert disease -- Cardiovascular [laurel.lso.missouri.edu]

Diaphragmatic hernia * Visceral diverticula * Tall build * Slight build Causes - Marphanoid syndrome type De Silva * hernia,herniation * rupture * harm,hurt,injury,trauma * health problem,ill health,unhealthiness * pathological state * condition,status * state Prevention [checkorphan.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.it]