Unusual clinical history of a male infant with Edwards Syndrome

Andrea Surányi, Tamás Bitó, György Vajda, László Kaiser, Gábor Gáspár, Márta Katona, János Szabó, Attila Pál

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.

Original languageEnglish
Pages (from-to)147-152
Number of pages6
JournalPathology and Oncology Research
Volume15
Issue number1
DOIs
Publication statusPublished - Mar 1 2009

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Keywords

  • Dysgenesis of corpus callosum
  • Edwards syndrome
  • Oesophageal atresia
  • Renal agenesis
  • Ultrasound

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

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