title: Pallister-Hall syndrome with hypoparathyroidism.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. wacharasindhu@yahoo.com
authors.forename: S
authors.initials: S
authors.lastname: Wacharasindhu
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: S
authors.initials: S
authors.lastname: Srivuthana
authors.forename: W
authors.initials: W
authors.lastname: Yodvisitsak
authors.forename: N
authors.initials: N
authors.lastname: Suwanwela
authors.forename: M O
authors.initials: MO
authors.lastname: Savage
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis* / Q000209:etiology; D007011:Hypoparathyroidism / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D007029:Hypothalamic Neoplasms / Q000175:diagnosis*; D008297:Male; D017689:Polydactyly / Q000175:diagnosis; D011629:Puberty, Precocious / Q000209:etiology; D012640:Seizures / Q000209:etiology; D013577:Syndrome