title: A patient with hypoparathyroidism, dysmorphic features and mental retardation.
abstract: There have been various reports in the medical literature concerning children with syndromes of congenital hypoparathyroidism, seizures, dysmorphic features and mental retardation. We describe a patient with hypoparathyroidism, mental retardation, micrognathia, deep-set eyes and pes cavus in a 31-year-old man. This combination of abnormalities in an adult is unique.
authors.affiliation: Department of Internal Medicine, Hadassah University Hospital - Ein Karem, Jerusalem 91120, Israel.
authors.forename: S E
authors.initials: SE
authors.lastname: Cohen
authors.forename: I
authors.initials: I
authors.lastname: Raz
authors.forename: R
authors.initials: R
authors.lastname: Safadi
mesh_terms: D000328:Adult; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012640:Seizures; D013577:Syndrome