[Marshall syndrome--case report].
A girl, 15, with Marshall syndrome, was hospitalized for retinal tear and detachment of the left eye. The results of ophthalmological examination and applied eye surgery have been described. The authors confirm the essential phenotypical overlap of Marshall and Stickler syndromes. This suggest that they are caused by variable expression of a differently mutated gene, probably the type II procollagen gene (COL2A1), known to play a part in the etiology of Stickler syndrome. This justifies the usage, by some authors, of the common name of Marshall-Stickler syndrome.
Liska
M
M
Kliniki Okulistycznej AM w Pozananiu.
Philips
R
R
Krawczyński
M R
MR
Pecold
K
K
Latos-Bieleńska
A
A
D000293:Adolescent; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D010641:Phenotype; D011347:Procollagen / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics / Q000601:surgery*; D013577:Syndrome
D011347:Procollagen
Zespół Marshalla--opis przypadku.