A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

Authors

  • Meenakshi S. Kushwah Department of Pediatrics, Gajra Raja Medical College, Gwalior, India
  • Ajay Gaur Department of Pediatrics, Gajra Raja Medical College, Gwalior, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20182589

Keywords:

Flexion finger deformity, Intellectual disability, Rocker-bottom feet, Trisomy 18

Abstract

Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.

References

Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111(4):777-84.

Brendan Lee. Cytogenetics. In: Behrman RE, Kliegman RM, Stanton BF, W. Joseph.Schor NF (eds). Nelson Textbook of Pediatrics ed. first South Asia edition. 2016:616-1.

Pant SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomy 18 and 13. Am J Med Genet A. 2006; 140:1749-56.

Edwards Jh, Harnden Dg, Cameron Ah, Crosse Vm, Wolff Oh. A new trisomic syndrome. Lancet 1960; 1(7128):787-90.

Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 18 in a defined populations: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23(10):856-60.

Naguib KK, Al-Awadi SA, Bastaki L. Clustering of trisomy 18 in Kuwait: genetic predisposition or environmental? Ann Saudi Med. 1999;19(3):197-200

Young ID, Cook JP, Mehta L. Changing demography of trisomy 18. Arch Dis Child. 1986; 1035-1036.6.10.

Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111(4):777-84.

Taylor AI. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. 1968;(3):227-52.

Steffensen TS, Opitz JM, Gilbert-Barness E. Congenital perineal hernia in a fetus with trisomy 18. Fetal Pediatr Pathol. 2009;28(2): 95-9.

Downloads

Published

2018-06-22

Issue

Section

Case Reports