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Pediatrics C.V.S. 947b03df

Which of the following syndromes is best associated with congenital heart disease?

A
Lesch-Nyhan syndrome
B
Rasmussen syndrome
C
Holt-Oram syndrome
D
Leopard syndrome
High-Yield Explanation
c. Holt-Oram syndrome(Ref: Nelson's 20/e p 746, Ghai 8/e p 413)Discussing about the options one by one,Name of the syndromeClinical featuresa. Lesch-Nyhan syndromeHyperuricemia, intellectual disability, dystonia, choreoathetosis, spasticity, dysarthric speech and compulsive self-biting, usually beginning with eruption of teethb. Rasumussen syndromeIt is an immune mediated disease associated with intractable unilateral seizures, progressive hemiparesis and intellectual dysfunctionc. Holt-Oram syndromeASD & bony abnormalities, with a strong familial tendency (autosomal dominant inheritance)d. LEOPARD syndromeLentigines (multiple), Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, Deafness

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