Atypical Presentation of Holt-Oram syndrome: A Case Report | ||
| Journal of Pediatric Perspectives | ||
| مقاله 9، دوره 9، شماره 6 - شماره پیاپی 90، شهریور 2021، صفحه 13731-13735 اصل مقاله (340.27 K) | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2020.53117.4209 | ||
| نویسندگان | ||
| Abhilasha Singh Panwar1؛ Amar Taksande* 2؛ Syed Athhar Saqqaf3؛ Rewat Meshram4 | ||
| 1R, MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India. | ||
| 2MD, FIAE, Fellow in Ped Card., Professor, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India. | ||
| 3MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : 442004, India. | ||
| 4MD, Associate Professor, Deptt of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra: 442004, India. | ||
| چکیده | ||
| Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX5 gene located on chromosome 12 (12q24.1) involving the upper limb and the heart, causing malformations like atrial septal defect. Herein, we report a rare case of HOS with atrial septal defect and ventricular septal defect with severe pulmonary arterial hypertension in a three-year-old child. | ||
| کلیدواژهها | ||
| Child؛ Heart-hand syndrome؛ Holt-Oram syndrome؛ ventricular septal defect | ||
|
آمار تعداد مشاهده مقاله: 507 تعداد دریافت فایل اصل مقاله: 2,042 |
||