Tuomaala-Haapanen Syndrome
General: Unknown etiology; features similar to pseudohypoparathyro 525e44f idism.
Ocular: Antimongoloid lid fissures; hypoplastic tarsus; distichiasis; nystagmus; strabismus; myopia; cataract; hypoplasia of the fovea.
Clinical: Dwarfism; short fingers and toes; wide nose bridge; small maxilla; oxycephaly; cutaneous depigmentation; alopecia; micrognathia; anodontia.
Albright R, et al. Pseudo-hypoparathyroidism - example of 'Seabright-Bantam syndrome,' report of 3 cases. Endocrinology 1942; 30:922.
Tuomaala P, Haapanen E. Three siblings with similar anomalies in the eyes, bones and skin. Acta Ophthalmol 1968; 46:365.
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