Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report

Alagbe, Olayemi Atinuke; Alagbe, Adekunle Emmanuel; Onifade, Emmanuel Olugbenga; Bello, T O

doi:10.11604/pamj.2019.33.181.13928

Cited by 4 publications

(5 citation statements)

References 9 publications

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“…Significant laboratory findings in TAR syndrome include a platelet count less than 50 000 plt/ml with normal platelet morphology on peripheral blood film examination. Other associated hematological features are eosinophilia, leukocytosis with a left shift 8 , all these features are seen in our case.…”

Section: Discussionsupporting

confidence: 72%

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Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

Alassri,

Martini,

Othman

et al. 2023

Annals of Medicine &Amp; Surgery

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Background: Bilateral radii aplasia with the presence of both thumbs and episodes of low platelets count are the main characteristics of thrombocytopenia with absent syndrome, which is an unusual birth disorder, with an incidence of 0.42\100 000 population. Case presentation: The authors reported a case of a 6-month-old baby girl who experienced thrombocytopenia at the age of 6 months for the first time, as a result of cow’s milk being introduced for 45 days with chronic diarrhea and growth failure. She had a deviation of the axis of the hand laterally, and a bilateral absent of radii with the presence of both thumbs. In addition, she had abnormal psychomotor development, marasmus case manifestations. Conclusions: Our aim in publishing the current case report is that clinicians caring for patients with thrombocytopenia with absent syndrome will be aware of the myriad of complications, which may occur in the other organ systems so that they can promptly diagnose and treat any associated abnormalities.

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Section: Discussionsupporting

confidence: 72%

“…The sex ratio of diagnosed cases was 1:1 6 . Although other studies reported female’s predilection 8 ( female patient in our case).…”

Section: Discussioncontrasting

confidence: 57%

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

Alassri,

Martini,

Othman

et al. 2023

Annals of Medicine &Amp; Surgery

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“…Diagnosis of the syndrome can occur prenatally by ultrasound and platelet count via fetal blood sampling via cordocentesis [10]. At birth, the absence of radii and the presence of thrombocytopenia, with or without other manifestations of TAR, are considered hallmarks of a positive diagnosis [6].…”

Section: Discussionmentioning

confidence: 99%

“…Upon diagnosis of TAR syndrome, the thrombocytopenia can be quite severe; approximately 95% of patients with the condition have a platelet count of <50,000/uL, normalizing over time in most patients [4]. Immediately after birth, approximately 50% of infants with TAR syndrome have symptomatic thrombocytopenia, and by four months of life, 90% will be symptomatic [6]. TAR syndrome has also been found to increase the occurrence of anomalies within hematologic, cardiovascular [4], gastrointestinal, and skeletal systems [7].…”

Section: Introductionmentioning

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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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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“…TAR syndrome has no gender, ethnic, or racial predilection 7 but some studies have reported females' predilection. 7 We present a child with TAR syndrome with tetralogy of Fallot (TOF) who underwent intracardiac repair (ICR). The child manifested features of hypothyroidism postoperatively which was a new find with this syndrome, not reported previously.…”

Section: Introductionmentioning

confidence: 99%

Thrombocytopenia and Absent Radii Syndrome with Tetralogy of Fallot and Hypothyroidism

et al. 2019

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Thrombocytopenia and absent radii (TAR) syndrome is a rare genetic disorder characterized by congenital absence of both radii, presence of both the thumbs, and severe thrombocytopenia which resolves spontaneously in childhood. The incidence is 0.5 to 1 per 100,000 live births and this syndrome may be associated with anomalies of other organs like gastrointestinal (milk protein allergy), genitourinary, cerebral, cardiac, renal, and so forth. Involvement of endocrine system is not reported in the literature. We describe a case of TAR syndrome with tetralogy of Fallot and newly diagnosed hypothyroidism.

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Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report

Cited by 4 publications

References 9 publications

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

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

Thrombocytopenia and Absent Radii Syndrome with Tetralogy of Fallot and Hypothyroidism

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