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Myhre syndrome, caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21, is a rare disorder characterised by mental retardation, dysmorphic facial features, typical skeletal anomalies and cardiovascular defects. Following a thorough genetic counselling interpeting the variant in the SMAD4 gene and the ultrasonographic findings as Myhre syndrome, at 35 weeks of gestation the parents elected termination of pregnancy. [Extracted from the article]