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Year : 2022  |  Volume : 71  |  Issue : 4  |  Page : 321-323

Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review

1 Department of Pediatrics, JSS Medical College and Hospital, JSSAHER, Mysuru, Karnataka, India
2 Department of Internal Medicine, JSS Medical College and Hospital, JSSAHER, Mysuru, Karnataka, India

Correspondence Address:
Dr. N Rashmi
Associate Professor, Department of Pediatrics, JSS Medical College, JSSAHER, Mysuru, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jasi.jasi_149_21

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Patau syndrome or Trisomy 13 is the least common and most severe of the viable autosomal trisomies. The frequent clinical features include holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, cleft lip and palate, neural tube defects, and heart defects, with neurological involvement being the most consistent one. It is usually recognized at birth by the typical birth defects with poor neurologic performance. About 85%‒90% of cases die during infancy, with only 5% to 10% of patients alive beyond 1 year. Patients surviving beyond 1 year have a severe developmental handicap. We present here an infant who came with a relatively milder form of Patau syndrome and was confirmed by karyotyping.

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