Mental retardation, macrostomia and hyperpnoea syndrome.
A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins. Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad-beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features.
Singh
H A
HA
Authority for Intellectually Handicapped Persons, West Perth, Australia.
D000015:Abnormalities, Multiple; D001049:Apnea; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; D006801:Humans; D006985:Hyperventilation; D007223:Infant; D008607:Intellectual Disability; D008265:Macrostomia; D008297:Male; D013577:Syndrome