Patau Syndrome Survival 6 Years & It’s Associated Ocular Findings: Case Report
Journal Title: International Journal of Medical Research Professionals - Year 2018, Vol 4, Issue 1
Abstract
Trisomy 13 is a rare syndrome with a prevalence of 1:12000- 1:29000 in newborns. Eighty-two percent die within one month. The majority of patients with patau syndrome have several ophthalmic abnormalities including microphthalmos, cyclopean synophthalmus, inferonasal iris clobomas of the uveal tract, cataracts and persistent hyperplasia of primary vitreous body and those finding represent 80% of cases. A 6-year-old and child was born at full term with microcephaly and CNS abnormalities. Late onset of seizures started when she was 2 years old, ASD, PDA, cleft lip and palate, microphthalmia, inferonasal iris cloboma and retinal detachment. Comparing it with 13 other cases of long survival patau syndrome to investigate the causes of longevity and to study it’s associated ocular anomalies. factors associated with prolonged survival rate are not fully understood, but many studies have mentioned that certain factors including genetic types translocations or mosaicism, race, female gender increase the survival rate. Most ophthalmic manifestations associate with patau syndrome are microphthamia, cloboma and cataract. We are reporting a 6 years old girl with patau syndrome studying it’s ocular findings and we have done a literature review to investigate the causes associated with long term survival since patau syndrome has poor vital prognosis.
Authors and Affiliations
Aisha Mohammed Alemam, Abdulrahman Alturki, Abdulqader AlHebshi, Sami Alloqmani
Keywords
Related Articles
- EP ID EP530078
- DOI 10.21276/ijmrp.2018.4.1.063
- Views 86
- Downloads 0
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