Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects
Yıl: 2022 Cilt: 9 Sayı: 3 Sayfa Aralığı: 302 - 306 Metin Dili: İngilizce DOI: 10.4274/jpr.galenos.2022.76993 İndeks Tarihi: 04-10-2022
Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects
Öz: Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are always present. The deletion of the RNA-binding motif protein 8A (RBM8A) gene on chromosome 1q21.1 in Array Comparative Genomic Hybridization confirms the diagnosis of TAR syndrome. Thrombocytopenia, which can cause complications, tends to resolve in the first year of life. Although there are delays in motor development, mental retardation is not one of the common clinical findings of this syndrome. In the differential diagnosis of severe radial defects, TAR syndrome, Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, and VACTERL association are included. The presence of key findings of each syndrome is important in the differential diagnosis. Here, we aimed to evaluate the approach to the differential diagnosis of severe radial anomalies in a patient with TAR syndrome and neuromotor retardation.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Karamık G, OZTURK N, Guzel Nur B, Karasu G, Mihci E (2022). Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. , 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| Chicago | Karamık Gökcen,OZTURK Nuray,Guzel Nur Banu,Karasu Gulsun,Mihci Ercan Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. (2022): 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| MLA | Karamık Gökcen,OZTURK Nuray,Guzel Nur Banu,Karasu Gulsun,Mihci Ercan Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. , 2022, ss.302 - 306. 10.4274/jpr.galenos.2022.76993 |
| AMA | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. . 2022; 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| Vancouver | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. . 2022; 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| IEEE | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E "Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects." , ss.302 - 306, 2022. 10.4274/jpr.galenos.2022.76993 |
| ISNAD | Karamık, Gökcen vd. "Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects". (2022), 302-306. https://doi.org/10.4274/jpr.galenos.2022.76993 |
| APA | Karamık G, OZTURK N, Guzel Nur B, Karasu G, Mihci E (2022). Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. The Journal of Pediatric Research, 9(3), 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| Chicago | Karamık Gökcen,OZTURK Nuray,Guzel Nur Banu,Karasu Gulsun,Mihci Ercan Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. The Journal of Pediatric Research 9, no.3 (2022): 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| MLA | Karamık Gökcen,OZTURK Nuray,Guzel Nur Banu,Karasu Gulsun,Mihci Ercan Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. The Journal of Pediatric Research, vol.9, no.3, 2022, ss.302 - 306. 10.4274/jpr.galenos.2022.76993 |
| AMA | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. The Journal of Pediatric Research. 2022; 9(3): 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| Vancouver | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects. The Journal of Pediatric Research. 2022; 9(3): 302 - 306. 10.4274/jpr.galenos.2022.76993 |
| IEEE | Karamık G,OZTURK N,Guzel Nur B,Karasu G,Mihci E "Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects." The Journal of Pediatric Research, 9, ss.302 - 306, 2022. 10.4274/jpr.galenos.2022.76993 |
| ISNAD | Karamık, Gökcen vd. "Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects". The Journal of Pediatric Research 9/3 (2022), 302-306. https://doi.org/10.4274/jpr.galenos.2022.76993 |
