Pallister-Hall syndrome with hypoparathyroidism.

We report on a 5 2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.