PMID: 15237717Jul 9, 2004Paper

Pallister-Hall syndrome with hypoparathyroidism

Journal of Pediatric Endocrinology & Metabolism : JPEM
S WacharasindhuM O Savage

Abstract

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.

References

Aug 15, 1994·American Journal of Medical Genetics·I N SillsC Lieber
Sep 1, 1993·American Journal of Medical Genetics·I N SillsF Desposito
Feb 1, 1994·Journal of Medical Genetics·H M ThomasA E Fryer
Dec 1, 1993·The Journal of Pediatrics·K F TopfL G Biesecker
Oct 2, 1996·American Journal of Medical Genetics·L G BieseckerA Verloes
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Mar 10, 2001·American Journal of Medical Genetics·C GalassoB Boscherini
Apr 18, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·P FeuillanL G Biesecker

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Citations

May 24, 2011·International Journal of Pediatric Endocrinology·Matthew D StephenSteven G Waguespack

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