|
|
|
|
Atypical Presentation of Holt-Oram syndrome: A Case Report
|
|
|
|
|
|
|
|
نویسنده
|
panwar abhilasha singh ,taksande amar ,saqqaf syed athhar ,meshram revat
|
|
منبع
|
journal of pediatric perspectives - 2021 - دوره : 9 - شماره : 6 - صفحه:13731 -13735
|
|
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.
|
|
کلیدواژه
|
Child ,Heart-hand syndrome ,Holt-Oram syndrome ,ventricular septal defect
|
|
آدرس
|
jawaharlal nehru medical college, deptt. of paediatrics, India, jawaharlal nehru medical college, deptt. of paediatrics, India, jawaharlal nehru medical college, deptt. of paediatrics, India, jawaharlal nehru medical college, deptt of paediatrics, India
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|