A patient with hypoparathyroidism, dysmorphic features and mental retardation.
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.
Cohen
S E
SE
Department of Internal Medicine, Hadassah University Hospital - Ein Karem, Jerusalem 91120, Israel.
Raz
I
I
Safadi
R
R
D000328:Adult; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012640:Seizures; D013577:Syndrome