ICNC Abstracts, ICNC 2018

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Pallister-Hall syndrome – case report
Himani Bhasin, Suvasini Sharma, Bijoy Patra

Last modified: 2018-09-09

Abstract


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 (Fig 1) and short stature. The MRI of the brain showed a hypothalamic hamartoma (Fig 2 A).The clinico-radiological profile was suggestive of Pallister Hall syndrome associated with frameshift mutations of the GLI3 gene.


Keywords


Pallister-Hall syndrome; Hypothalamic hamartoma; Central polydactyly; Penoscrotal hypospadias; GLI3 gene

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