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Patau syndrome with a long survival: a case report
Duarte, A. C; Menezes, A. I. C; Devens, E. S; Roth, J. M; Garcias, G. L; Martino-Roth, M. G.
Afiliación
  • Duarte, A. C; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
  • Menezes, A. I. C; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
  • Devens, E. S; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
  • Roth, J. M; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
  • Garcias, G. L; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
  • Martino-Roth, M. G; Universidade Federal de Pelotas. Departamento de Zoologia e Genetica. Servico de Aconselhamento Genetico. BR
Genet. mol. res. (Online) ; Genet. mol. res. (Online);3(2): 288-292, jun. 2004.
Article en En | LILACS | ID: lil-387946
Biblioteca responsable: BR1.1
RESUMO
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 Cangucu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS Asunto principal: Trisomía / Anomalías Múltiples / Cromosomas Humanos Par 13 Límite: Child, preschool / Female / Humans Idioma: En Revista: Genet. mol. res. (Online) Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2004 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Brasil
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS Asunto principal: Trisomía / Anomalías Múltiples / Cromosomas Humanos Par 13 Límite: Child, preschool / Female / Humans Idioma: En Revista: Genet. mol. res. (Online) Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2004 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Brasil