1Assistant Professor, Department of Pediatrics, Shree Guru Gobind Singh Tricentenary Medical College and Hospital, Gurugram, India
2Associate Professor, Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India
*Corresponding author email id: himani.bhasin@yahoo.co.in
Online published on 9 April, 2019.
An 8 year old boy was brought with history of developmental delay and seizures since 6 months of age. He was the first child of a third degree consanguineous couple. He had been born full term and had cried immediately at birth. He had been detected to have penoscrotal hypospadias at birth for which he had undergone multiple corrective surgeries. On examination, he had dysmorphic facies with bulbous nose tip, small stubby hands with central polydactyly and short stature. The MRI of the brain showed a hypothalamic hamartoma.
Hypothalmic hamartoma, Penoscrotal hypospadias, polydactyly, GLI3
