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Megarbane Syndrome

Short Stature, Abnormal Face, Joint Laxity, Hernias, Delayed Bone Age, and Severe Psychomotor Retardation


Presentation

  • Underdevelopment (hypoplasia) or absence (aplasia) of the bone on the thumb side of the forearms (radii) may also be present.[rarediseases.org]
  • CANDLE syndrome CANDLE syndrome is inherited via autosomal recessive manner Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature ( CANDLE ) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory[en.wikipedia.org]
  • Comparisons and Student's t-test are made between cri du chat syndrome patients receiving inosine and either normal controls or patients presenting mental retardation of another etiology.[publications.fondationlejeune.org]
  • (Title), (Event), (Date Presented), (Organiser), (Level).[umexpert.um.edu.my]
  • ., Josephson, S.A. (2008) Presentation of reversible posterior leukoencephalopathy syndrome in patients on calcineurin inhibitors.[scindeks.ceon.rs]
Physician
  • Years Published 1992, 2000, 2006, 2007, 2019 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
  • He was a Fulbright scholar at the Center for Diseases Control and Prevention (CDC) in Atlanta, USA and a past recipient of the 8 th Royal College of Physicians of London and Academy of Medicine of Malaysia Annual Research Award, Australia-Malaysia Fellowship[umexpert.um.edu.my]
Sepsis
  • Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country.[umexpert.um.edu.my]
Lymphadenopathy
  • The multiple inflammatory developments include nonspecific lymphadenopathy, hepatosplenomegaly, and autoimmune hemolytic anemia.[en.wikipedia.org]
Swelling
  • Signs and symptoms for these types of cancer can include bone pain, swelling and fractures for osteosarcoma, or lymph node enlargement, fever and unexplained weight loss for lymphoma.[rarediseases.org]
Hemophilia A
  • Barbacaru, V. ureaBIOCHEMICAL AND MOLECULAR TOOLS FOR DIAGNOSIS OF HEMOPHILIA IN MOLDOVA ABSTRACTS Ina Palii, M. Rudi, Olga Beli, Ludmila Tiron, A.[dokumen.tips]
Respiratory Distress
  • Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia).[ghr.nlm.nih.gov]
  • DENGUE-ASSOCIATED ADULT-RESPIRATORY-DISTRESS-SYNDROME Annals of Tropical Paediatrics ( ISI-Indexed ) Lum LCS, Thong MK, Cheah YK, Lam SK. Dengue-associated adult respiratory distress syndrome.[umexpert.um.edu.my]
Aspiration
Respiratory Insufficiency
  • ., 2017-05-20 to 2017-05-21, Baylor College of Medicine USA and Chinese University of Hong Kong, (International) Congenital skeletal abnormalities and respiratory insufficiency, Malaysian Thoracic Society Annual Congress 2017. 20 23rd July 2017., 2017[umexpert.um.edu.my]
Ptosis
  • People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids ( ptosis ), outside corners of the eyes that point downward ( downslanting palpebral fissures ), skin folds covering the inner corner[ghr.nlm.nih.gov]
Skin Lesion
  • The types of outwardly visible conditions involve facies not matching other known disorders, contracture of the joints, and skin lesions appearing across any part of the body.[en.wikipedia.org]
Cryptorchidism
  • Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.[ghr.nlm.nih.gov]
Akinesia
  • Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis).[ghr.nlm.nih.gov]

Treatment

  • Treatment for BGS consists primarily of surgery to correct or repair skeletal or other defects. Other treatment is symptomatic and supportive. Baller-Gerold syndrome is thought to be inherited in an autosomal recessive pattern.[rarediseases.org]
  • DIAGNOSTIC AND TREATMENT Victoria Sacara, Elena Scvortova,. Duca, N. Usurelu, V.[dokumen.tips]
  • You can help by adding to it. ( July 2017 ) Treatment [ edit ] Unlike other autoinflammatory disorders, patients with CANDLE do not respond to IL-1 inhibition treatment in order to stop the autoinflammatory response altogether.[en.wikipedia.org]
  • Treatment with inosine and folinic acid cause " normalization " of their in vitro sensitivity to HAT medium. These changes observe in vitro were highly significant.[publications.fondationlejeune.org]
  • «MIT Technology Review, Jul 15» IRB Barcelona scientists provide molecular details about Seckel … There are no treatment options for microcephaly to date. This defect in brain growth is present in several neurodevelopmental diseases, ...[educalingo.com]

Prognosis

  • In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.[educalingo.com]
  • Iordache, Alina-Costina Luca, Stefana-Maria Moisa UNFAVOURABLE PROGNOSIS FACTORS IN HEART FAILURE CHILDREN C.[dokumen.tips]

Etiology

  • Comparisons and Student's t-test are made between cri du chat syndrome patients receiving inosine and either normal controls or patients presenting mental retardation of another etiology.[publications.fondationlejeune.org]
  • Etiology and pathogenesis. Microcephaly is believed to result from decreased neuronal and glial proliferation / increased ... Dario Paladini, Paolo Volpe, 2014 3 Clinical Pediatric Neurology: A Signs and Symptoms Approach Microcephaly.[educalingo.com]

Epidemiology

  • Epidemiology, cytogenetics and clinical features. Hum Genet, 1978, 44:227-275. 9. PEETERS M., LEJEUNE J. - Beneficial effect of 6-mercaptopurine on the mitotic index of trisomy 21 lymphocytes: implications for future research.[publications.fondationlejeune.org]
  • Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients Qjm-an International Journal of Medicine.[umexpert.um.edu.my]
Sex distribution
Age distribution

Pathophysiology

  • AJNR Am J Neuroradiol, 29(6): 1036-42 [ CR ] [ PM ] [ EČ ][ 1 ][ GS ] Bartynski, W.S. (2008) Posterior reversible encephalopathy syndrome, part 2: controversies surrounding pathophysiology of vasogenic edema.[scindeks.ceon.rs]
  • Within the context of metabolic changes secondary to a primary lesion, it should be possible to unveil the pathophysiological consequences of a chromosomal imbalance, as Garrod had already suggested in 1908 for inborn errors of metabolism.[publications.fondationlejeune.org]

Prevention

  • Typically, mutations that prevent the production of any γ subunit will result in the lethal type, while mutations that allow the production of some γ subunit will lead to the Escobar type.[ghr.nlm.nih.gov]
  • This can be done by separating the bony sections and lining the seams between them with materials to prevent fusion. The younger the patient is at the time of the surgery, the better the results.[rarediseases.org]
  • Reducing the Impact of Genetic Diseases: Curative and Preventive Aspects. JUMMEC (Journal of the University of Malaya Medical Center) 2006; 1: 78- 80. ( SCOPUS-Indexed ) 2005 Thong, M. K., Bazlin, R. I. R., Wong, K. T. 2005.[umexpert.um.edu.my]

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