Abstract

BUEDO RUBIO, María Isabel; PLAZA ALMEIDA, Josefa; CARRASCOSA ROMERO, Mª Carmen  and  ALFARO PONCE, Blanca. Trisomy X, related to dysmorphic phenotype. Rev Clin Med Fam [online]. 2011, vol.4, n.2, pp.162-165. ISSN 2386-8201.

The triple X syndrome is a relatively common chromosome abnormality, with an incident of 1 per 1,000 or 1,200 live new born infants, generally related to advanced maternal age. However, it is not usually suspected at birth due to the lack of a characteristic phenotype and, although dysmorphism may be variable, there is usually no clinical manifestation. This is why diagnosis is often delayed until after the presentation of primary ovary failure. Facial dysmorphism and other related malformations, especially of genitourinary system, such as ambiguous genitalia, ovarian dysgenesis, cloacal exstrophy, renal agenesis and less frequently heart diseases or other diseases, have been rarely reported in the literature. The prognosis is variable, depending on the severity of the abnormalities, although cases of mental retardation have been described. Most patients have normal or slightly below normal intelligence. We report a case of a girl diagnosed in the neonatal period with polymalformation syndrome, which included rare abnormalities, such as a peculiar facial dysmorphism, abnormal implantation of the thumb, bilateral hearing loss and congenital heart disease. The more common findings in this syndrome were also present such as psychomotor and language retardation. We emphasise the importance of early diagnosis for prompt installation of treatment.

Keywords : Trisomy X; Chromosomal Abnormalities.

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