Pseudohypoparathyroidism syndrome (chronic renal tubular insufficiency syndrome; seabright-bantam syndrome; albright hereditary osteodystrophy)

General: Etiology unknown; autosomal dominant; more common in females (2: 1); present from birth; kidney and skeleton fail to respond to parahormone; if patients receive parathyroid extract, their kidneys fail to respond with phosphate diuresis; genetic form of hypoparathyroidism resulting from end-organ resistance to parathyroid hormone; resulting hypocalcemia is responsible for many of the clinical features of this syndrome.

Ocular: Strabismus; blue sclera; punctate cataracts (white opacities and polychromatic cortex); papilledema; hypertelorism; keratitis; scleral and choroidal calcifications; blepharospasm; cataracts.

Clinical: Short stature; short metacarpals; short limbs; round face with short neck; decalcification of teeth; obesity; fat, stubby hands; tetany with positive Chvostek and Trousseau signs; atypical seizure disorder.

Albright F, et al. Pseudo-hypoparathyroidism: an example of 'Seabright-Bantam syndrome.' Endocrinology 1942; 30:922.

Blin O, et al. Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. Mov Disord 1991; 6:379.

Faig JC, et al. Chronic atypical seizure disorder and cataracts due to diagnosis of pseudohypoparathyroidism. West J Med

Wong S, et al. Scleral and choroidal calcifications in a patient with pseudohypoparathyroidism. Br J Ophthalmol 1979; 63:177-l80.