Which of the following syndromes is best associated with congenital hea disease
Correct Answer: Holt oram syndrome
Description: Holt oram charge association syndrome is a autosomal dominant disease characterized by Cardiac lesion( ostium secundum ASD,VSD,TOF, pulmonary stenosis), coloboma, choanal atresia,genital hypoplasia,ear abnormalities,growth retardation due to TBX5 mutation Lesch nyhan syndrome/ juvenile gout is associated with self mutilation of hand & feet,intelluctal disability,early death Rasmussen syndrome is chronic focal encephalitis character used by seizure,hemiparesis,aphasia,dementia Leopard / noon an syndrome ,there will be Lentigines,Electrocardiographic conduction anomaly,Ocular hypeelorism, Pulmonary stenosis,Abnormal genitalia,Retarded growth & Deafness Ref : Ghai essential of pediatrics, eighth edition, p.no:401
Category:
Pediatrics
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