All the following syndromes are associated with cardiac lesions except
Correct Answer: Rasmussen syndrome
Description: Rasmussen syndrome is not associated with any cardiac lesions. Common genetic conditions linked to occurrence of congenital hea disease Syndrome Genetic mutation; inheritance Cardiac lesions Other features CATCH 22 Microdeletion in 22q; autosomal dominant (AD) Interrupted aoic arch, TOF, VSD, persistent truncus aeriosus, double outlet right ventricle Cleft palate, hypocalcemia, thymic hypoplasia, nasal regurgitation, gastroesophageal reflux, learning disability Williams Beuren Microdeletion in elastin (7qll.23); AD Supravalvar aoic stenosis, pulmonary stenosis, hypeension Elfin facies, mental retardation, hypersocial personality, sho stature, hypercalcemia Down Trisomy 21; Robesonian translocation or mosaicism AV canal defect, perimembranous VSD, TOF Characteristic fades, clinodactyly, mental retardation; hypotonia Turner 45XO or 46/45XO; mosaic Bicuspid aoic valve, coarctation Sho stature, gonadal dysgenesis lymphedema Noonan PTPNll; AD Pulmonic stenosis, hyperophic cardiomyopathy, ASD Sho stature, dysmorphic fades, webbed neck, developmental delay, cryptorchidism VATER association Sporadic VSD, TOF Veebral, renal and limb defects, anal atresia, tracheoesophageal fistula Holt Oram TBX5; AD Ostium Secundum ASD; VSD Radial ray anomalies CHARGE association CHD7; often de novo Branch pulmonary aery stenosis, TOF, VSD Coloboma, growth failure, choanal atresia, genital hypoplasia, ear anomalies Alagille JAG1; most cases are de novo Pulmonary stenosis, TOF Dysmorphic fades, cholestatic jaundice, butterfly veebrae, renal anomalies Reference: Essential Paediatrics; O.P. Ghai; Page no: 401
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