Sanjeev Khera

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BACKGROUND The classical forms of severe SMA type 0 is well recognised by Pediatricians. CASE CHARACTERISTICS A hypotonic neonate with severe respiratory distress at birth. OBSERVATIONS Homozygous absence of exons 7 of the Survival Motor Neuron I gene. OUTCOME Died 108 days after admission when respiratory support was withdrawn at the request of the(More)
BACKGROUND Down syndrome (DS) is a common chromosomal abnormality associated with congenital heart disease (CHD). These cardiac abnormalities are known to be associated with pulmonary arterial hypertension (PAH). METHODS The aim of this study was to assess the prevalence of PAH in DS children with CHD and to compare it with PAH prevalence in non-syndromic(More)
BACKGROUND Thrombocytopenia has not been conclusively reported as a complication of phototherapy in any of the standard paediatric textbooks. MATERIALS AND METHOD A prospective study in consecutively enrolled cohort of apparently healthy neonates, who developed indirect hyperbilirubinaemia and required phototherapy. Neonates having a base line platelet(More)
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