Anaesthesia Management for Edward's Syndrome (Trisomy 18).

نویسندگان

  • Çağla Bali
  • Özlem Özmete
  • Pınar Ergenoğlu
  • Şule Akın
  • Anış Arıboğan
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Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report

INTRODUCTION Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome. CASE PRESENTATION The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatob...

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Ocular manifestations in Edward's syndrome, a case report and literature review

Purpose To report a case with Edward's syndrome and ocular manifestations. Methods A three-year-old female visited our clinic. The diagnosis of Edward's Syndrome was made prior to the ophthalmic visit based on a karyotype study report. Complete ophthalmic evaluations were done for the patient. Results On the initial ophthalmic examination, bilateral ptosis, epicanthal folds, and 40 prism di...

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Diagnosis of genetic defects by chromosomal analysis.

Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were detected very early in life. Mean age at the ti...

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The Chromosomes in Heart Disease

THE CONGENITAL chromosomal syndromes are those in which an implied, but unproved, causal relationship exists between microscopically detectable chromosomal aberrations and congenital malformations and biochemical abnormalities. Precise pathogenetic mechanisms giving rise to these congenital defects are unknown, but it is probable that they ultimately derive from the quantitative imbalance impos...

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Identification of group'E' chromosome abnormalities in human cells.

Definite identification of the chromosome involved in E trisomy (Edward's syndrome; Edwards et al, 1960) and in various structural alterations of the 17/18 autosomes has often been difficult on purely morphological grounds (Hamerton, 1971). Autoradiographic evidence that chromosome No. 18 completes synthesis later than No. 17 (Giannelli and Howlett, 1967) and that the extra chromosome in E tris...

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عنوان ژورنال:
  • Turkish journal of anaesthesiology and reanimation

دوره 44 3  شماره 

صفحات  -

تاریخ انتشار 2016