medigraphic.com
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2012, Number 5

<< Back Next >>

Rev Invest Clin 2012; 64 (5)

Major craniofacial defects: case series and prenatal diagnosis at the Instituto Nacional de Perinatología, Mexico

Velázquez-Torres B, Gallardo-Gaona JM, Acevedo-Gallegos S, Ramírez-Calvo JA, Benavides-Serralde JA, Camargo-Marín L, Cervantes-Parra LE, Martínez-Juárez A, Guzmán-Huerta ME

Language: English
References: 30
Page: 420-428
PDF size: 289.92 Kb.


ABSTRACT

Objective. To describe the prenatal diagnosis, characteristics, development, perinatal outcome, and final diagnosis of pregnancies complicated by fetuses with major craniofacial defects, at the Instituto Nacional de Perinatología, México, 1997- 2008. Material and methods. A retrospective, descriptive study from January of 1997 to January 2008, analyzed 152 pregnancies complicated by fetuses with major craniofacial defects, diagnosed at the Department of Fetal Medicine of the National Institute of Perinatology. Data were obtained from patients clinical records. Results. The mean age was 28 ± 8 years, with the largest number of cases between 20 and 24. The mean gestational age at diagnosis was 27.5 ± 6.4 gestational weeks. The average termination of pregnancy was at 35 ± 5 gestational weeks. In 43.4% of cases there were no major structural defects associated with the facial defect. The most commonly associated structural alterations were cerebral, cardiac, and limb abnormalities. Karyotyping was performed in only 57 cases, and was abnormal in 25. Conclusions. Structural ultrasound should be performed on all pregnant women between weeks 18 and 24 for detection of major craniofacial defects. Where defects are found, a thorough review of other structures should be carried out to determine whether the defects are syndromic. A systematic and multidisciplinary approach is essential to providing the best care and appropriate advice to parents.


REFERENCES

  1. Trigos Micoló I, Guzmán y López Figueroa ME. Análisis de la incidencia, prevalencia y atención del labio y paladar hendido en México. Cirugía Plástica 2003; 13(1): 35-9.

  2. Merritt L. Understanding the embryology and genetics of cleft lip and palate. Adv Neonatal Care 2005; 5(2): 64-71.

  3. Sperber GH. Head and Neck (craniofacial abnormalities). In: Gilbert Barness E. Potter’s Pathology of the fetus and infant. USA: Mosby; 1997.

  4. Zhou YQ, Ji J, Mu XZ, Zhang RH, Wei M, Yu ZY. Diagnosis and classification of congenital craniofacial cleft deformities. J Craniofac Surg 2006; 17(1): 198-201.

  5. Niemeyer MF, van der Meulen J. The genetics of craniofacial malformations. In: Stricker M, van der Meulen J, Rápale B, Mazzola R (eds.). Craniofacial Malformations. London: Churchill Livingstone; 1990.

  6. Benacerraf BR, Frigoletto FD Jr, Bieber FR. The fetal face: ultrasound examination. Radiology 1984; 153(2): 495-7.

  7. Offerdal K, Jebens N, Syvertsen T, Blaas HG, Johansen OJ, Eik-Nes SH. Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway. Ultrasound Obstet Gynecol 2008; 31(6): 639-46.

  8. Hunt JA, Hobar PC. Common craniofacial anomalies: the facial dysostoses. Plast Reconstr Surg 2002; 110(7): 1714-25.

  9. Common craniofacial anomalies: facial clefts and encephaloceles. Hunt JA, Hobar PC. Plast Reconstr Surg 2003; 112(2): 606-15.

  10. Langman J. Embriología médica. 9th. Ed. Buenos Aires: Médica Panamericana; 2004.

  11. Wong FK, Hagg U. An update on the aetiology of orofacial clefts. Hong Kong Med J 2004; 10(5): 331-6.

  12. Johnston MC, Bronsky PT. Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 1995; 6(4): 368-422.

  13. Fearon JA. Rare craniofacial clefts: a surgical classification. J Craniofac Surg 2008; 19(1): 110-12.

  14. Nyberg DA, Sickler GK, Hegge FN, Kramer DJ, Kropp RJ. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 1995; 195(3): 677-84.

  15. Perrotin F, de Poncheville LM, Marret H, Paillet C, Lansac J, Body G. Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate. Eur J Obstet Gynecol Reprod Biol 2001; 99(1): 19-24.

  16. Chmait R, Pretorius D, Moore T, Hull A, James G, Nelson T, Jones M. Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero. Ultrasound Obstet Gynecol 2006; 27(2): 173-6.

  17. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis 2007; 2: 8.

  18. Robin NH, Franklin J, Prucka S, Ryan AB, Grant JH. Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence. Am J Med Genet A 2005; 137A(3): 298-301.

  19. Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK Jr. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients. Am J Med Genet A 2003; 120A(2): 256-60.

  20. Bergé SJ, Plath H, Van de Vondel PT, Appel T, Niederhagen B, Von Lindern JJ, Reich RH, Hansmann M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18(5): 422-31.

  21. Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 2005; 15(3): 270-8.

  22. Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet 1999; 8(10): 1853-9.

  23. Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet A 2003; 117A(1): 47-56.

  24. Cooper ME, Ratay JS, Marazita ML. Asian oral-facial cleft birth prevalence. Cleft Palate Craniofac J 2006; 43(5): 580-9.

  25. Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol 2004; 19(5): 337-42.

  26. Wyszynski DF, Beaty TH. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts. Teratology 1996; 53(5): 309-17.

  27. Wantia N, Rettinger G. The current understanding of cleft lip malformations. Facial Plast Surg 2002; 18(3): 147-53.

  28. Spritz RA. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr 2001; 13(6): 556-60.

  29. Eppley BL, van Aalst JA, Robey A, Havlik RJ, Sadove AM. The spectrum of orofacial clefting. Plast Reconstr Surg 2005; 115(7): 101e-114e.

  30. Ortiz Monasterio F, Taylor JA. Major craniofacial clefts. Case series and treatment philosophy. Plast & Reconstr Surg 2008; 122(2): 534-43.




2020     |     www.medigraphic.com