Atypical Presentation of Holt-Oram syndrome: A Case Report
Publish place: International Journal of Pediatrics، Vol: 9، Issue: 6
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_INJPM-9-6_009
تاریخ نمایه سازی: 17 خرداد 1400
Abstract:
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX۵ gene located on chromosome ۱۲ (۱۲q۲۴.۱) 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.
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Authors
Abhilasha Singh Panwar
R, MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : ۴۴۲۰۰۴, India.
Amar Taksande
MD, FIAE, Fellow in Ped Card., Professor, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : ۴۴۲۰۰۴, India.
Syed Athhar Saqqaf
MBBS, Pediatrics Resident, Deptt. of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra : ۴۴۲۰۰۴, India.
Rewat Meshram
MD, Associate Professor, Deptt of Paediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra: ۴۴۲۰۰۴, India.