Okulo-dentales Syndrom Typ Rutherfurd

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Krankheitsbeschreibung

Houston and Shotts (1966) restudied the family reported by Rutherfurd (1931). In 5 generations affected persons showed corneal dystrophy, hypertrophy of gums, and failure of tooth eruption. Seven persons in 4 generations were affected with 3 instances of male-to-male transmission. Houston and Shotts (1966) described the corneal opacities as curtain-like, involving the superior part of the cornea. Although mental retardation and aggressive behavior had been noted, it was not certain whether these abnormalities were manifestations of the syndrome or segregated independently.
Quelle: OMIM

Orofaziale Manifestation

Zahnanomalien (Oligodontie, Formanomalie)

Literatur

  • Houston, I. B., Shotts, N.Rutherfurd's syndrome. A familial oculo-dental disorder. A clinical and electrophysiologic study.Acta Paediat. Scand. 55: 233-238, 1966.
  • Rutherfurd, M. E.Three generations of inherited dental defect.Brit. Med. J. 2: 9-11, 1931. PMID 20776268

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