1.
Indian J Hum Genet
;
2000 Jan; 6(1): 45-49
Artículo
en Inglés
| IMSEAR
| ID: sea-143505
RESUMEN
An 18 year old female with multiple ocular disorders showed more or less cardinal features similar to that of an autosomal dominantly inherited Marfan Syndrome. Related features with variable symptoms were seen in her sibs. Major and minor manifestations of MFS like cardio-vascular, respiratory problems, spine deformities, arachnodactyly were not observed. Pedigree analysis showed high incidence of consanguinity.