Aviña FJA, Terence WB

Language: Spanish
References: 22
Page: 132-135
PDF size: 117.50 Kb.

ABSTRACT

The current classification of the congenital with multiple take in count four groups: syndrome, sequence, complex and association, by this way it is possible have a clinical diagnosis of these dysmorphic disorders and it’s pathogenetical explanation, even in spit of the phenotypic variability of some syndromes. The use of this classification facilitate an early diagnostic of theses diseases, and it’s classification.

REFERENCES

1. Smith DW. Classification, nomenclature, and naming of morphologic defects. J Pediatr 1975; 87: 162-3.

2. Kalter H. Congenital malformations: an inquiry into classification and nomenclature. J Med Genet 1998; 35: 661-5.

3. Herrmann J, Opitz JM. Naming and nomenclature of syndromes. Birth Defects Orig Artic Ser 1974; 10: 69-86.

4. Khoury MJ, Moore CA, Evans JA. On the use of the term «syndrome» in clinical genetics and birth defects epidemiology. Am J Med Genet 1994; 49: 26-8.

5. Rachidi M, Lopes C. Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms. Neurosci Res 2007; 59: 349-69.

6. Cole A, Lynch P, Slator R. A new grading of PierreRobin sequence. Cleft Palate Craniofac J 2008; 45: 603-6.

7. Marques IL, Bettiol H, de Souza L, Barbieri MA, Bachega MI. Longitudinal study of the growth of infants with isolated Robin sequence considered being severe cases. Acta Paediatr 2008; 97: 371-5.

8. Biri A, Karaouz MY, Ince GD, Ergün MA, Meneve S, Bingöl B. Double aneuploidy involving trisomy 7 with Potter sequence. Eur J Med Genet 2005; 48: 67-73.

9. Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? Am J Med Genet 2001; 101: 158-62.

10. Jones KL. Jones M, Fisher JC. A developmental approach to the classification of birth defects. Ann Plast Surg 1985; 14: 135-41.

11. Gougoutas AJ, Singh DJ, Low DW, Bartlett SP. Hemifacial microsomia clinical features and pictographic representations of the OMENS classification system. Plast Reconstr Surg 2007; 120: 112-20.

12. Shalev SA, Hall JG. Poland anomaly, report of an unusual family. Am J Med Genet A 2003; 118: 180-3.

13. Kalter H. Congenital malformations: an inquiry into classification and nomenclature. J Med Genet 1998; 35: 661-5.

14. Pelluard-Nehmé F, Baudet C, Carles D, Alberti EM, Deirue MA, Lacombe D. A new case of VACTERL association with unilateral amelia of upper limb. Clin Dysmorphol 2007; 16: 185-187.

15. Vergnes C, Cordier MP, Dubois R, Bouvier R, Cochat P. MURCS association: a challenging diagnosis. Arch Pediatr 2005; 12: 49-51.

16. Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol 2003; 67: 193-201.

17. Griz S, Cabral M, Azevedo O, Ventura E. Audiologic results in patients with Moebius sequence. Int J Pediatr Otorhinolaryngol 2007; 71: 1457-63.

18. Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gérard-Blanluet M. Giant omphalocele and “Prune Belly” sequence as components of the Beckwith-Wiedemann syndrome. Am J Med Genet A 2004; 129: 198-200.

19. Vuorela PE, Penttinen MT, Hietala MH, Lame JO, Huoponen KA et al. A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. Clin Dysmorphol 2008; 17: 249-53.

20. Dahan K, Kamal M, Noël EH, Jeanpierre C, Gubler MC et al. Small glomeruli in WAGR (Wihns Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. Am J Kidney Dis 2007; 49: 793-800.

21. Biesecker LG. Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations. Clin Genet 2005; 68: 320-6.

22. Merks JH, van Karnebeek CD, Caron HN, Hennekam RC. Phenotypic abnormalities: terminology and classification. Am J Med Genet A 2003; 123: 211-30.