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Sandhya J, Sarfaraz R Momin, Rajesh Kulkarni, Prakash S Gambhir, Chhaya V Valvi, Aarti A Kinikar, Sandhya S Khadse
Department of Pediatrics, B J Government Medical College and Sassoon Hospital, Pune, India
Address for correspondence: Dr Rajesh Kulkarni, Associate Professor, Department of Pediatrics, B J Government Medical College and Sassoon Hospital, Pune, India. Email: email@example.com
A 2 month old overweight baby (weight 6.3 kg >95th percentile and height 59cm at 50th percentile) born of non consanguineous marriage came with history of hypoglycemic convulsions since day 15 of life. On examination, child had microcephaly (32 cm <3 centile),
umbilical hernia and a large tongue.
What is the diagnosis_?