[A case of familial Marfan syndrome without manifested ocular anomalies].
Three sibs aged 14, 13 and 10 years are described. The Marfan's syndrome was inherited from their father. Full penetration and pseudovariable expressivity of the mutant gene were characteristic of the case. With pronounced phenotypic manifestations of the mutation inherited, the lack of typical ocular anomalies was evident.
Kavtaradze
N P
NP
Natriashvili
G D
GD
Kapanadze
N B
NB
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
Semeĭnyĭ sluchaĭ sindroma Marfana bez manifestatsii glaznykh anomaliĭ.