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 PálEmail author
Brief Communication


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.


Dysgenesis of corpus callosum Edwards syndrome Oesophageal atresia Renal agenesis Ultrasound 



agenesis of corpus callosum


partial agenesis of corpus callosum


central nervous system






National Organization for Disorders of the Corpus Callosum




ventricular septal defect


  1. 1.
    Inbar D, Halpern GJ, Weitz R et al (1997) Agenesis of the corpus callosum in a mother and son. Am J Med Genet 69:152–154PubMedCrossRefGoogle Scholar
  2. 2.
    Lynn RB, Buchanan DC, Fenichel GM et al (1980) Agenesis of the corpus callosum. Arch Neurol 37:444–445PubMedGoogle Scholar
  3. 3.
    Naiman J, Fraser FC (1955) Agenesis of the corpus callosum; a report of two cases in siblings. AMA Arch Neurol Psychiatry 74:182–185PubMedGoogle Scholar
  4. 4.
    Naritomi K, Chinen Y, Asato Y (1997) Agenesis of corpus callosum in three sibs. Jpn J Hum Genet 42:539–541PubMedCrossRefGoogle Scholar
  5. 5.
    Pineda M, Gonzalez A, Fabregues I et al (1984) Familial agenesis of the corpus callosum with hypothermia and apneic spells. Neuropediatrics 15:63–67PubMedCrossRefGoogle Scholar
  6. 6.
    Pirola B, Bortotto L, Giglio S et al (1998) Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031–1033PubMedCrossRefGoogle Scholar
  7. 7.
    Shapira Y, Cohen T (1973) Agenesis of the corpus callosum in two sisters. J Med Genet 10:266–269PubMedCrossRefGoogle Scholar
  8. 8.
    Tepper R, Zalel Y, Gaon E et al (1996) Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum. Am J Obstet Gynecol 174:877–878PubMedCrossRefGoogle Scholar
  9. 9.
    Lockwood CJ, Ghidini A, Aggarwal R et al (1988) Antenatal diagnosis of partial agenesis of the corpus callosum: a benign cause of ventriculomegaly. Am J Obstet Gynecol 159:184–186PubMedGoogle Scholar
  10. 10.
    Aribandi M (2004) Corpus Callosum, Agenesis. In: eMedicine Specialties/Radiology/PEDIATRICS. Cited 1 Oct 2007
  11. 11.
    Koubek SL (2005) Agenesis of the Corpus Callosum. In: image the weekly source for radiology professionals vol. 18, no. 7. Cited 2 Oct 2007
  12. 12.
    Naional Centre for Healthcare Audit and Inspection (2004) National Database of Birth Defects and Developmental Disabilities. Cited 2 Oct 2007
  13. 13.
    Dobyns WB (1996) Absence makes the search grow longer. Am J Hum Genet 58:7–16PubMedGoogle Scholar
  14. 14.
    Jonas RE, Kimonis VE, Morales A (1997) Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. Am J Med Genet 73:184–188PubMedCrossRefGoogle Scholar
  15. 15.
    Velisavljev-Filipović G (2005) Agenesis of the corpus callosum in a premature infant associated with Langdon–Down syndrome. Med Pregl 58:587–591PubMedCrossRefGoogle Scholar
  16. 16.
    Ellison D, Love S, Chimelli L (eds) (1998) Neuropathology. A reference text of CNS pathology. Mosby PublishingGoogle Scholar
  17. 17.
    Pilu G (1999) Agenesis of the corpus callosum. In: Articles/Central Nervous System/Agenesis of the corpus callosum. Cited 5 Oct 2007
  18. 18.
    Moriyama E, Nishida A, Sonobe H (2007) Interhemispheric multiloculated ependymal cyst with dysgenesis of the corpus callosum: a case in a preterm fetus. Childs Nerv Syst 23:807–813PubMedCrossRefGoogle Scholar
  19. 19.
    Franco I, Kogan S, Fisher J et al (1993) Genitourinary malformations associated with agenesis of the corpus callosum. J Urol 149:1119–1121PubMedGoogle Scholar
  20. 20.
    González-Zamora JF, Villegas-Alvarez F (2005) Esophageal atresia and chromosomal abnormalities in a Mexican children population: descriptive analysis. Cir Pediatr 18:196–199PubMedGoogle Scholar
  21. 21.
    Sugito K, Koshinaga T, Hoshino M et al (2006) Study of 24 cases with congenital esophageal atresia: what are the risk factors? Pediatr Int 48:616–621PubMedCrossRefGoogle Scholar
  22. 22.
    Saing H, Mya GH, Cheng W (1998) The involvement of two or more systems and the severity of associated anomalies significantly influence mortality in esophageal atresia. J Pediatr Surg 33:1596–1598PubMedCrossRefGoogle Scholar
  23. 23.
    Engum SA, Grosfeld JL, West KW et al (1995) Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades. Arch Surg 130:502–508, discussion 508–509PubMedGoogle Scholar
  24. 24.
    Ein SH, Shandling B, Wesson D et al (1989) Esophageal atresia with distal tracheoesophageal fistula: associated anomalies and prognosis in the 1980s. J Pediatr Surg 24:1055–1059PubMedCrossRefGoogle Scholar
  25. 25.
    Niedrist D, Riegel M, Achermann J et al (2006) Survival with trisomy 18—data from Switzerland. Am J Med Genet 140:952–959CrossRefPubMedGoogle Scholar
  26. 26.
    Kamnasaran D (2005) Agenesis of the corpus callosum: lessons from humans and mice. Clin Invest Med 28:267–282PubMedGoogle Scholar
  27. 27.
    Curnes JT, Laster DW, Koubek TD et al (1986) MRI of corpus callosal syndromes. AJNR Am J Neuroradiol 7:617–622PubMedGoogle Scholar
  28. 28.
    Utsunomiya H, Ogasawara T, Hayashi T et al (1997) Dysgenesis of the corpus callosum and associated telencephalic anomalies:MRI. Neuroradiology 39:302–310PubMedCrossRefGoogle Scholar

Copyright information

© Arányi Lajos Foundation 2008

Authors and Affiliations

  • Andrea Surányi
    • 1
  • Tamás Bitó
    • 1
  • György Vajda
    • 1
  • László Kaiser
    • 1
    • 2
  • Gábor Gáspár
    • 1
    • 3
  • Márta Katona
    • 1
    • 4
  • János Szabó
    • 1
    • 5
  • Attila Pál
    • 1
    Email author
  1. 1.Department of Obstetrics and GynaecologyUniversity of SzegedSzegedHungary
  2. 2.Department of PathologyUniversity of SzegedSzegedHungary
  3. 3.Public Health and Medical Officer ServiceSzegedHungary
  4. 4.Department of PaediatricsUniversity of SzegedSzegedHungary
  5. 5.Department of Medical GeneticsUniversity of SzegedSzegedHungary

Personalised recommendations