Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia resulting in potentially severe bleeding episod...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2015-03-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/5626/12263_CE[Ra1]_F(AK)_PF1(NJAK)_PFA(P)_PF2(PAG).pdf |
| _version_ | 1818285119816859648 |
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| author | Mani Kant Kumar Indradeo Prasad Chaudhary Ram Bilas Ranjan Prashant Kumar |
| author_facet | Mani Kant Kumar Indradeo Prasad Chaudhary Ram Bilas Ranjan Prashant Kumar |
| author_sort | Mani Kant Kumar |
| collection | DOAJ |
| description | Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic
thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia
resulting in potentially severe bleeding episodes primarily during infancy. We report the case of a 7-day-old term appropriate for gestational
age (AGA) male baby, product of non consanguineous marriage presented with bloody loose stool, right sided upper limb deformity
and paleness of the body, was diagnosed as TAR syndrome with some atypical presentation. Such type of atypical presentation has
not been previously reported in a case with TAR Syndrome.Patient was managed in our hospital with packed cell transfusion and two
units platelets concentrates transfusion, Intra-venous antimicrobials, and other supportive treatment. He gradually improved and was
discharged after seven days of hospital stay with advice to consult orthopedic surgeon for opinion regarding limb reconstruction. |
| first_indexed | 2024-12-13T01:03:38Z |
| format | Article |
| id | doaj.art-70efef8c04584901aa40942ed3a2014d |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-13T01:03:38Z |
| publishDate | 2015-03-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-70efef8c04584901aa40942ed3a2014d2022-12-22T00:04:37ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-03-0193SD01SD0210.7860/JCDR/2015/12263.5626Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?Mani Kant Kumar0Indradeo Prasad Chaudhary1Ram Bilas Ranjan2Prashant Kumar3Associate Professor, Department of Pediatrics, Narayan Medical College & Hospital, Jamuhar, Sasaram, District-Rohtas, Bihar, India.Professor, Department of Pediatrics, Narayan Medical College & Hospital, Jamuhar, Sasaram, District-Rohtas, Bihar, India.Assistant Professor, Department of Pediatrics, Narayan Medical College & Hospital, Jamuhar, Sasaram, District-Rohtas, Bihar, India.Assistant Professor, Department of Pediatrics, Narayan Medical College & Hospital, Jamuhar, Sasaram, District-Rohtas, Bihar, India.Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia resulting in potentially severe bleeding episodes primarily during infancy. We report the case of a 7-day-old term appropriate for gestational age (AGA) male baby, product of non consanguineous marriage presented with bloody loose stool, right sided upper limb deformity and paleness of the body, was diagnosed as TAR syndrome with some atypical presentation. Such type of atypical presentation has not been previously reported in a case with TAR Syndrome.Patient was managed in our hospital with packed cell transfusion and two units platelets concentrates transfusion, Intra-venous antimicrobials, and other supportive treatment. He gradually improved and was discharged after seven days of hospital stay with advice to consult orthopedic surgeon for opinion regarding limb reconstruction.https://jcdr.net/articles/PDF/5626/12263_CE[Ra1]_F(AK)_PF1(NJAK)_PFA(P)_PF2(PAG).pdfabsent unilateral radiusatypical presentationthrombocytopenia |
| spellingShingle | Mani Kant Kumar Indradeo Prasad Chaudhary Ram Bilas Ranjan Prashant Kumar Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? Journal of Clinical and Diagnostic Research absent unilateral radius atypical presentation thrombocytopenia |
| title | Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? |
| title_full | Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? |
| title_fullStr | Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? |
| title_full_unstemmed | Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? |
| title_short | Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? |
| title_sort | thrombocytopenia with unilateral dysplastic radius is it thrombocytopenia absent radius tar syndrome |
| topic | absent unilateral radius atypical presentation thrombocytopenia |
| url | https://jcdr.net/articles/PDF/5626/12263_CE[Ra1]_F(AK)_PF1(NJAK)_PFA(P)_PF2(PAG).pdf |
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