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The occurrence of von Willebrand disease (VWD) is relatively uncommon. Type 1 is more prevalent than the other types. The disease prevalence is about only 1%, in which type 1 includes 60-80% of the cases, type 2 includes 20-30% of cases, and type 3 accounts for < 5% of the cases. It mainly arises due to homozygous or composite heterozygous mutations in the von Willebrand factor gene (12p13.3) leading to synthesis of a truncated protein or allele silencing. We report a case of newborn 34-week gestation who presented with abdominal distension with melena and seizures. The child's plasma was studied and it revealed VWD.

The double aneuploidy or two chromosomal abnormalities occurring in an individual are relatively uncommon. It mainly arises due to non-disjunction at either first or second meiotic division. The double aneuploidy 48, XXY, +21 was described for the 1st time in 1959, and the incidence is reported to be 0.4–0.9/10,000 male births. Chromosomal abnormalities are seen in 1–2% of live births. We report a case of newborn with the clinical features of Down’s syndrome, the most common aneuploidy and genetic cause of moderate intellectual disability. Cytogenetic analysis showed karyotype of 48, XYY, + 21. Our case had double aneuploidy (48,XYY, +21) with congenital heart disease and hypothyroidism.