Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.
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.
Steinlein
O
O
Institute of Human Genetics, University of Heidelberg, Germany.
Tariverdian
G
G
Boll
H U
HU
Vogel
F
F
D000015:Abnormalities, Multiple / Q000145:classification* / Q000235:genetics; D000328:Adult; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome