Atypical Presentation of Holt-Oram syndrome: A Case Report
عنوان مقاله: Atypical Presentation of Holt-Oram syndrome: A Case Report
شناسه ملی مقاله: JR_INJPM-9-6_009
منتشر شده در در سال 1400
شناسه ملی مقاله: JR_INJPM-9-6_009
منتشر شده در در سال 1400
مشخصات نویسندگان مقاله:
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.
خلاصه مقاله:
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.
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.
کلمات کلیدی: Child, Heart-hand syndrome, Holt-Oram syndrome, Ventricular Septal Defect
صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1225408/