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

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.

• Authors: O Steinlein, G Tariverdian, H U Boll, F Vogel
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 41 Issue 2 Pg. 196-200 (Nov 01 1991) ISSN: 0148-7299 [Print] United States
• PMID: 1785634 (Publication Type: Case Reports, Journal Article, Review)

Topics

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