Rutherfurd sendromu

Rutherfurd sendromu, otosomal dominant yolla aktarılan, ender görülen kalıtsal bir sendromdur. Göz bulguları arasında kornea distrofisi (opak kornea) ve katarakt saptanır.^[1]^[2]^[3]

Dişlerin sürmesini engelleyebilen dişeti büyümeleri vardır. Aşırı kıllanma (hipertrikoz) izlenir.^[4] Epilepsi bulgularına ek olarak zeka geriliği ve agresif davranışlar belirlenir.^[1]^[3]

Kaynakça

^ ^a ^b Rutherfurd ME. Three generations of inherited dental defect. British Medical Journal, 2: 9-11, 1931
^ Houston IB, Shotts N. Rutherfurd’s syndrome: a familial oculo-dental disorder. Acta Paediatrica Scandinavica, 55:233–238, 1966
^ ^a ^b Higgs JE, Clayton-Smith J. Rutherfurd syndrome revisited. Clinical Dysmorphology, 24(3):125-127, 2015
^ Aghili H, Goldani Moghadam M. Hereditary gingival fibromatosis: a review and a report of a rare case. Case Reports in Dentistry, 2013:1–4, 2013

[:0-1] Rutherfurd ME. Three generations of inherited dental defect. British Medical Journal, 2: 9-11, 1931

[2] Houston IB, Shotts N. Rutherfurd’s syndrome: a familial oculo-dental disorder. Acta Paediatrica Scandinavica, 55:233–238, 1966

[:1-3] Higgs JE, Clayton-Smith J. Rutherfurd syndrome revisited. Clinical Dysmorphology, 24(3):125-127, 2015

[4] Aghili H, Goldani Moghadam M. Hereditary gingival fibromatosis: a review and a report of a rare case. Case Reports in Dentistry, 2013:1–4, 2013

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