Sevilla-Montoya R, Grether-González P, Quintana-Palma M, Martínez-Juárez A, Aguinaga-Ríos M

Language: Spanish
References: 19
Page: 115-120
PDF size: 150.67 Kb.

ABSTRACT

Intrauterine growth restriction (IUGR) is an alteration in fetal development in which the fetal weight is below the 10th percentile for gestational age. The genetic causes of IUGR can be classified as: chromosomal, epigenetic and other imprinting disorders and monogenic syndromes. We report a patient with IUGR referred to our hospital with the prenatal diagnosis of achondroplasia. Vascular malfunction of the placentae, maternal pathology, and skeletal dysplasia were discarded. A karyotype in umbilical cord and in three different placental spots was performed, with a normal result in all of them, ruling out placentae mosaicism. At birth, the weight and height were below the 3th percentile. Physical examination showed: dolicocephaly, frontal prominence, large fontanels, small and triangular face, pointed chin and incurved bilateral fifth fingers. Two months later a lower limb asymmetry was noticed and gastroesophageal reflux was referred. With these clinical abnormalities and the studies performed the diagnosis of Silver-Russell syndrome was established.

REFERENCES

1. Maulik D. Fetal growth restriction: the etiology. Clin Obstet Gynecol 2006; 49: 228-35.

2. Hasegawa J, Arakawa K, Nakamura M, Matsuoka R, Ichizuka K, Katsufumi O, Sekizawa A Okai T. Analysis of placental weight centiles is useful to estímate cause of fetal growth restriction. J Obstet Gynaecol Res 2011; 37:1658-65.

3. Monk D, Moore GE. Intrauterine growth restriction-genetic causes and consequences. Semin Fetal Neonatal Med 2004; 9: 371-8.

4. Snijders RJM, Sherrod C, Gosden CM, Nicolaides KH. Fetal growth retardation: Associated malformations and chromosomal abnormalities. Am J Obstet Gynecol 1993; 168: 547-55.

5. Kalousek D, Vekemans M. Confined placental mosaicism. J Med Genet 1996; 13: 529-33.

6. Loughna P. Intrauterine growth restriction: Investigation and management. Curr Obstet Gynecol 2006; 16: 261-6.

7. Schonherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation? Eur J Med Gent 2006; 49: 414-8.

8. Barker DJ. The fetal and infant origins of disease. Eur J Clin Invest 1995; 25: 457-63.

9. Barker DJ, Eriksson JG, Forsen T, Osmond C. Fetal origins of adult disease: strength of effects and biological basis. Int J Epidemiol 2002; 31: 1235-9.

10. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000; 22: 452-9.

11. Eggerman T. Russell-Silver syndrome. Am J Med Genet 2010; 154C: 355-64.

12. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837-42.

13. Sankaran S, Phillipa MK. Etiology and pathogenesis of IUGR. Best Pract Res Clin Obstet Gynaecol 2009: 765-77.

14. Hendrix N, Berghella V. Non-placental causes of intrauterine growth restriction. Semin Perinat 2008; 32: 161-5.

15. Scifres C, Nelson M. Intrauterine growth restriction, human placental development and trophoblast cell death. J Physiol 2009; 587: 3453-8.

16. Murphy VE, Smith R, Giles WB, Clifton VL. Endocrine regulation of human fetal growth: the role of mother, placenta, and fetus. Endocr Rev 2006; 27: 141-69.

17. Sagot P, David A, Talmant C, Pascal O, Winer N, Boog G. Russell-Silver syndrome: an explanation for discordant growth in monozygotic twins. Fetal Diagn Ther 1996; 11: 72-8.

18. Terán MC, Terán EC, Villaroel AP. Síndrome de Russell-Silver, reporte de un caso. Rev Soc Bol Ped 2007; 46: 33-5.

19. Wakeling EL, Abu-Amero S, Alders M, Bliek J, Forsythe E, Kumar S et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010; 47: 760-8.