Marfan syndrome in a Triplo-X girl: a new association?

ABSTRACT

Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. To report an unusual association between Triple X and Marfan disease in a girl. A case of a triple X girl with craniofacial dysmorphy and skeletal anomalies, who did feat Marfan criteria by age, is presented. To the best of our knowledge this association has never been reported. Some clinical features are common between Triplo X and Marfan disease so a careful follow-up is needed and investigations should be performed in these patients because Marfan syndrome may be incomplete in early age