Reconstruction of Limb Deformities in Patients with Thrombocytopenia‐absent Radius Syndrome

Kaissi, Ali Al; Girsch, Werner; Kenis, Vladimir; Melchenko, Evgeniy; Ghachem, Maher Ben; Pospischill, Renata; Klaushofer, Klaus; Grill, Franz; Rudolf, G.

doi:10.1111/os.12157

Cited by 12 publications

(4 citation statements)

References 23 publications

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“…Patients with TAR syndrome have absent radii with preserved fingers and thumbs bilaterally [12]. These patients tend to have a contracture of the joint, which causes flexion and radial deviation of their hands, resulting in the hands often being at right angles to the forearms [13]. The syndrome frequently results in hypoplasia of the muscles and soft tissues in the shoulders and arms [13].…”

Section: Discussionmentioning

confidence: 99%

“…These patients tend to have a contracture of the joint, which causes flexion and radial deviation of their hands, resulting in the hands often being at right angles to the forearms [13]. The syndrome frequently results in hypoplasia of the muscles and soft tissues in the shoulders and arms [13]. Shoulder abnormalities associated with TAR syndrome may include absent or hypoplastic scapula, glenoid fossa, clavicle, or acromion.…”

Section: Discussionmentioning

confidence: 99%

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Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Farlett¹,

Kulkarni²,

Thomas³

et al. 2022

Cureus

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Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital syndrome that follows an autosomal recessive pattern of inheritance. TAR syndrome is characterized by thrombocytopenia and bilateral absence (aplasia) of the radii of the forearms. This syndrome can be associated with defects within the skeletal, cardiac, renal, or gastrointestinal systems. It is important for clinicians treating patients with TAR syndrome to be aware of the myriad of complications that may arise in the other organ systems in order to promptly diagnose and treat any associated anomalies. We present a case of an African American infant diagnosed with TAR syndrome who was also found to have grade 5 vesicoureteral reflux and moderate right hydronephrosis, as well as cow's milk protein allergy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Farlett¹,

Kulkarni²,

Thomas³

et al. 2022

Cureus

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“…Platelet stimulating agents such as romiplostim and oprelvekin have shown promising results in their ability to correct thrombocytopenia in patients affected by TAR syndrome [ 12 ]. Orthopedic intervention with procedures such as prosthesis, orthoses, and adaptive device is indicated to manage the absent radii [ 13 ]. In addition, it is recommended that cow’s milk should be avoided in patients with TAR syndrome, as most suffer from an associated cow’s milk protein allergy.…”

Section: Discussionmentioning

confidence: 99%

Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia

Cowan

Parikh

Waghela

et al. 2020

Cureus

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Thrombocytopenia with absent radii (TAR) syndrome is a rare genetic syndrome that occurs with a frequency of about 0.42 cases per 100,000 live births. It is characterized by hypomegakaryocytic thrombocytopenia with bilateral absent radii and the presence of both thumbs. The thrombocytopenia is initially very severe, manifesting in the first few weeks to months of life, but subsequently improves with time to reach near normal values by one to two years of age. We present a case of a newborn with TAR syndrome with an atypical presentation of mild thrombocytopenia in the first week of life, with early normalization of platelet counts in the neonatal period. The patient deviates from the normal pattern in which 95% of patients with TAR syndrome usually develop significant thrombocytopenia (platelet counts of less than 50 x 10 9 platelets/L) within the first four months of life. Additionally, the absence of hypomegakaryocytes on peripheral smear sets this patient apart from the typical cases of TAR syndrome. TAR syndrome is often associated with significant morbidity and mortality secondary to severe thrombocytopenia, which occurs with the highest frequency in the first 14 months of life. The most common cause of mortality is due to a severe hemorrhagic event occurring in the brain, gastrointestinal tract, and other organs. Therefore, all patients with TAR syndrome should be monitored closely for symptomatic thrombocytopenia with platelet transfusions being implemented as the first-line therapy for the treatment of severe or symptomatic disease.

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“…Following the identification of the two SNPs, at least 22 new TAR cases have been reported (Omran et al , ; Bottillo et al , ; Baken et al , ; Idahosa et al , ; Papoulidis et al , ; Reid et al , ; Yassaee et al , ; Al Kaissi et al , ; Kumar et al , ,b; Pereira et al , ; Tassano et al , ; Nicchia et al , ; Jameson‐Lee et al , ). However, the presence of the microdeletion on chromosome 1q21.1 or of the hemizygous SNPs has not been reported in more than half of the described patients (Omran et al , ; Baken et al , ; Idahosa et al , ; Reid et al , ; Al Kaissi et al , ; Kumar et al , ; Pereira et al , ). Many clinical issues of TAR syndrome remain enigmatic: How does the increase in platelet count occur prior to the shift in TPO reactivity in patients' platelets?…”

Section: Diagnosis/differential Diagnosesmentioning

confidence: 99%

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome

et al. 2017

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Thrombocytopenia absent radii (TAR) syndrome is clearly defined by the combination of radial aplasia and reduced platelet counts. The genetics of TAR syndrome has recently been resolved and comprises a microdeletion on Chromosome 1 including the RBM8A gene and a single nucleotide polymorphism (SNP) either at the 5' untranslated region (5'UTR) or within the first intron of RBM8A. Although phenotypically readily diagnosed after birth, the genetic determination of particular SNPs in TAR syndrome harbours valuable information to evaluate disease severity and treatment decisions. Here, we present clinical data in a cohort of 38 patients and observed that platelet counts in individuals with 5'UTR SNP are significantly lower compared to patients bearing the SNP in intron 1. Moreover, elevated haemoglobin values could only be assessed in patients with 5'UTR SNP whereas white blood cell count is unaffected, indicating that frequently observed anaemia in TAR patients could also be SNP-dependent whereas leucocytosis does not correlate with genetic background. However, this report on a large cohort provides an overview of important haematological characteristics in TAR patients, facilitating evaluation of the various traits in this disease and indicating the importance of genetic validation for TAR syndrome.

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Reconstruction of Limb Deformities in Patients with Thrombocytopenia‐absent Radius Syndrome

Abstract: Patients with TAR syndrome who receive optimal treatment can expect to return to most activities of daily living with some limitation of wrist extension and ulnar deviation and, of course, with a reduced total active range of digital motion.

Cited by 12 publications

References 23 publications

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome

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