Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome

Am J Med Genet. 1991 Nov 1;41(2):196-200. doi: 10.1002/ajmg.1320410213.

Abstract

We report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Walton syndromes. In accordance with Norio and Raitta (Norio R, Raitta C (1986): Am J Med Genet 25:397-398) we come to the conclusion that these 2 syndromes constitute one clinical but possibly heterogeneous entity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / classification*
  • Abnormalities, Multiple / genetics
  • Adult
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics
  • Muscle Hypotonia / genetics
  • Retinal Degeneration / genetics*
  • Retinal Detachment / genetics
  • Syndrome