Buphthalmos in trisomy 13

Trisomy 13 and extended survival.

A 9-year-old boy with classical clinical features of trisomy 13 (Patau's syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.

Natural history of trisomy 13.

The poor prognosis of patients with trisomy 13 has long been accepted and has been ascribed to brain and heart malformations. It has been suggested, however, that the long term survival is better than was previously thought and that cardiac surgery may be justified. This population based study reviews the incidence, antenatal diagnosis, spectrum of survival from congenital heart disease, and mo...

Trisomy 13 in two infants with cyclops.

Histogenesis of retinal dysplasia in trisomy 13

BACKGROUND Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition. METHODS A full pediatric autopsy was performed of a near term infant wh...

Sacrococcygeal Teratoma associated with Trisomy 13

Sacrococcygeal teratoma (SCT) is rarely associated with syndromes. We report a female newborn with a prenatal diagnosis of small sacrococcygeal teratoma and postnatally diagnosed as having trisomy 13. The sacrococcygeal teratoma was excised. It was reported as mature teratoma. The child succumbed to sepsis postoperatively.