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Patau syndrome with a long survival. A case report.

Authors :
Duarte AC
Menezes AI
Devens ES
Roth JM
Garcias GL
Martino-Roth MG
Source :
Genetics and molecular research : GMR [Genet Mol Res] 2004 Jun 30; Vol. 3 (2), pp. 288-92. Date of Electronic Publication: 2004 Jun 30.
Publication Year :
2004

Abstract

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.

Details

Language :
English
ISSN :
1676-5680
Volume :
3
Issue :
2
Database :
MEDLINE
Journal :
Genetics and molecular research : GMR
Publication Type :
Academic Journal
Accession number :
15266400