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REPORTdrooling of saliva, but continuous drooling was observed post birth until 1 year of age.The patient also experienced difficulty in suckling, deglutition, and partially impaired speech since 1 year of age.At the time of birth, the patient had a large tongue, and the antenatal ultrasonography was suspect for omphalocele.Post birth, the doctor diagnosed BWS, and genomic deoxyribonucleic acid (DNA) was screened for BWS 5 days after birth for copy numbers and methylation status of the 11p15 region to detect aberrant methylation of one or more sequences of KvDMR and H19DR domains within the BWS/RSS gene cluster.The result showed normal methylation with IC1 (H19DR) and hypomethylation with IC2 (KvDMR).The diagnosis of BWS was confirmed in the child due to imprinting abnormality of KvDMR.As the patient was at risk of developing clinical manifestations associated with BWS, genetic consultation along with regular monitoring for various clinical features was advised.Family history was not relevant.
Jamdade et al. (Thu,) studied this question.