Macrothrombocytopenia in velocardiofacial syndrome

Pallotta, R; Evangelista, Virgilio; Margaglione, Maurizio; Bucci, Ines; Saponari, Anita

doi:10.1111/j.1538-7836.2005.01202.x

Cited by 12 publications

(17 citation statements)

References 17 publications

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“…This was contrary to previous case reports where a significant bleeding tendency was not described. 68,69 The blood films in the study demonstrated macrothrombocytopenia, supported by other reports. 68,69 An abnormal PFA-100 result was seen in 71.4% of cases and correlated with bleeding symptoms.…”

Section: Presentation and Diagnosissupporting

confidence: 88%

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Inherited Macrothrombocytopenias

Rabbolini

Stevenson

Ward

2014

Semin Thromb Hemost

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Inherited macrothrombocytopenias are a clinically heterogeneous group of disorders, many of which cause moderate-to-severe bleeding tendencies in affected individuals, but which remain under-recognized and are frequently misdiagnosed as immune thrombocytopenia purpura. Diagnostic strategies to date have included a predominant phenotypic approach. The emergence of genetic testing and the implementation of next generation sequencing strategies in the investigation and diagnosis of these disorders have broadened our understanding of their pathogenesis, classification, and presentation. This review describes the increasingly expanding group of recognized inherited macrothrombocytopenias and highlights their pathophysiology and the role of phenotypic and genetic testing in their description and diagnosis.

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Section: Presentation and Diagnosissupporting

confidence: 88%

“…68,69 The blood films in the study demonstrated macrothrombocytopenia, supported by other reports. 68,69 An abnormal PFA-100 result was seen in 71.4% of cases and correlated with bleeding symptoms. Impaired platelet response to ristocetin was reported in 33.3% and impaired responses to TRAP were present in 47.6% of cases.…”

Section: Presentation and Diagnosissupporting

confidence: 88%

Inherited Macrothrombocytopenias

Rabbolini

Stevenson

Ward

2014

Semin Thromb Hemost

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“…Asthma Allergy Immunol 2016;14:129-142 22q11.2 delesyonlu hastaların %90'ından fazlasında, delesyonlu kromozom bölgesinde, platelet adezyonu için kritik olan ve agregasyon ve trombin-aracılı aktivasyon için önemli olan platelet GPIb-V-IX reseptörünün bir subünitesini kodlayan GPIb beta geni bulunur (35). Bu genin defekti, GPIb-V-IX'un sayısal veya fonksiyonel defektine neden olur.…”

Section: Hematolojik Bulgularunclassified

“…Bu nedenle BSS'lu hastalardaki kadar olmasa da platelet volümlerinde yükseklik sözkonusudur. Tüm bunlara rağmen, DGS'lu hastalarının kanamaya artmış meyil olduğunu gösteren yayın azdır (35). DiGeorge sendromunu, kalıtsal dev platelet hastalığı sebebi olan 12 hastalıktan birisi kabul eden yayınlar da vardır (36).…”

Section: Hematolojik Bulgularunclassified

DiGeorge Syndrome

Göktürk¹,

Reisli²

2016

Asthma Allergy Immunol

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ÖZDiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir. Ancak bu hasta grubundaki genotipfenotip korelasyonu oldukça zayıftır. Fasiyal dismorfizm, mentalmotor gelişim basamaklarında gecikme ve makrotrombositopenisi olan her çocuk DGS'nun diğer bulguları açısından sorgulanmalı, gerekirse tetkik edilmelidir. Tüm bulguların birarada olması gerekmediği akılda tutulmalıdır. Tanı alan hastaların hayatlarının değişik evrelerinde değişik problemlerle karşılaşacağı bilinmeli, hasta ve ailesine yeterli genetik danışmanlık verilmelidir. Bu derlemede, sık rastlanan bir delesyon sendromu olduğu halde tanısının çok kolay atlandığı ve tanı konduktan sonra da takipte zorlukların çekildiği DGS ile ilgili ayrıntılı bilgi vermek ve farkındalığı artırmak amaçlanmıştır. ABSTRACTDiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up. GİRİŞDaha önce velokardiyofasiyal sendrom (VCFS=Shprintzen sendromu), DiGeorge sendromu (DGS), CHARGE sendromu (kolobom, kalp anomalisi, koanal atrezi, retardasyon, genital ve kulak anomalisi), Optiz G/BBB sendromu ve Cayler kardiyofasial sendromu, konotrunkal anomali yüz (Takao) sendromu ve kedi gözü sendromu (cat-eye syndrome) gibi birçok isimle adlandırılmış olan sendromların, günümüzde yapılabilen genetik çalışmalar sayesinde aslında aynı genetik temele sahip olduğu bulunmuştur. Tüm bu sendromlar 22q11.2 bölgesindeki heterozigot bir mikrodelesyon kaynaklı olduğu için '22q11.2 delesyon sendromu' adı altında toplanmıştır (1). Ancak hastaların yaklaşık %5-10'unda 10p13 delesyonu saptanması nedeniyle bu terim her zaman sendromun tam karşılığı olmamaktadır (2).

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“…X-linked thrombocytopenia 52 Familial platelet disorder with predisposition to acute myelogenous leukemia 53 Amegakaryocytic thrombocytopenia 54 Amegakaryocytic thrombocytopenia with radioulnar synostosis 55 Thrombocytopenia with absent radii 56 Bernard-Soulier syndrome 6,57 Velocardiofacial/DiGeorge syndrome 58 VWD type 2B/platelet type VWD 59 Benign Mediterranean macrothrombocytopenia 60 X-linked thrombocytopenia and dyserythropoiesis with or without anemia/X-linked thrombocytopenia-thalassemia 61…”

Section: Was 51mentioning

confidence: 99%

Clinical and Laboratory Assessment of the Bleeding Pediatric Patient

Revel‐Vilk

2011

Semin Thromb Hemost

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Children presenting with bleeding symptoms pose a diagnostic challenge. The evaluation should include a comprehensive medical and bleeding history, detailed family history, a physical examination, and selected laboratory tests. Evaluation of the bleeding history should include an objective quantitation of the bleeding symptoms, followed by objective quantitation of the family members' bleeding symptoms. If a bleeding disorder is suspected, based on personal and/or family bleeding history, specific laboratory testing is needed for attaining a diagnosis. The screening tests for coagulation factor deficiencies are considered reliable, routinely available, and easy to perform. However, for primary hemostatic defects, the various screening tests have not yet proven to be reliable and thus referral for a specialized hematology consultation and specific laboratory testing are needed. Perhaps a Bayes theorem approach, combining the personal and family bleeding history with the results of a screening test for a primary hemostatic defect would prove to be useful in the identification of those children who will most benefit from specific laboratory testing.

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Macrothrombocytopenia in velocardiofacial syndrome

Cited by 12 publications

References 17 publications

Inherited Macrothrombocytopenias

Inherited Macrothrombocytopenias

DiGeorge Syndrome

Clinical and Laboratory Assessment of the Bleeding Pediatric Patient

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