Mulvihill-Smith Syndrome
General: Progeroid disorder.
Ocular: Keratoconus; conjunctivitis.
Clinical: Patients have short stature, microcephaly, unusual facies, numerous pigmented nevi, hypodontia, sensorineural hearing loss, immunodeficiency (low IgG), and a high-pitched voice.
Bartsch O, et al. Mulvihill-Smith syndrome: case report and review. J Med Genet 1994; 31:707-711.
Okashi N, et al. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Am J Med Genet 1997; 45: 597-600.
Rau S, Duncker GI. Keratoconus in Mulvihill-Smith syndrome. Klin Monatsbl Augenheilkd 1994; 205:44-46.
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