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ISSN 2007-6037 (Print)
Órgano Oficial de Difusión de la Asociación Mexicana de Comunicación, Audiología, Otoneurología y Foniatría, A.C.,

2012, Number 2

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Rev Mex AMCAOF 2012; 1 (2)

Phonoaudiological alterations in velocardiofacial syndrome (deletion 22q11.2). Presentation of a case with right cervical aortic arch

Márquez-Ávila CS, Montoya-Aranda I, Morán-Barroso VF, Rojas-Sosa MC, Olvera-Gómez JL

Language: Spanish
References: 32
Page: 126-135
PDF size: 341.28 Kb.


ABSTRACT

The velocardiofacial syndrome (MIM #192430; VCFS) is caused by a microdeletion on the long arm of the 22nd chromosome (22q11.2). The phenotype is characterized by craniofacial abnormalities such as microcephaly, small palpebral fissures, epicanthus, prominent nose with bulbous tip, malar hypoplasia, and a small open mouth. Other common clinical features include cardiovascular disorders (conotruncal), short stature, psychomotor retardation, mental retardation, psychiatric disorders and learning disabilities. The most common anomalies which can affect speech include cleft palate, and submucous cleft palate which frequently shows a severe velopharyngeal insufficiency. The prevalence of this syndrome is 1/2000 to 1/4000 live births. The case of a 5 year-old girl is presented. She was sent to the Hospital Infantil de México Federico Gómez because she showed a speech disorder. During the initial evaluation, a pulsating right neck mass that had been previously ignored was detected. A cytogenetic evaluation with fixed an in-situ hybridization (FISH) test confirmed the 22q11.2 deletion. Further on, it was determined that the mass corresponded to a right cervical aortic arch, which is considered an extremely rare cardiovascular malformation. The aim of this study was to describe the main clinical characteristics of this syndrome, including speech and hearing disorders, as well as to describe the multidisciplinary assessment.


REFERENCES

  1. DiGeorge A. Discussions on a new concept of the cellular basis of inmunology. J Pediatr 1965; 67: 907.

  2. Conley E, Beckwith B, Mancer K. The spectrum of the DiGeorge syndrome. J Pediatr 1997; 94: 883-90.

  3. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine (Baltimore) 2011; 90(1): 1-18.

  4. Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011; 32(11): 1278-89.

  5. Shprintzen RJ, Golding-Kushner KJ. Velo-Cardio-Facial Syndrome. San Diego: Plural Publishing; 2008.

  6. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence and contribution to major birth in the population. Pediatrics 2003; 112(1, Pt. 1): 101-7.

  7. Ozer L, Lembet A, Ugurlu N, Baltaci V, Balci S. Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm. Turk J Pediatr 2012; 54(1): 74-6.

  8. Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981; 57(3): 253-6.

  9. Croft CB, Shprintzen RJ, Rakoff SJ. Patterns of velopharyngeal valving in normal and cleft palate subjects: a multi-view videofluoroscopic and nasendoscopic study. Laryngoscope 1981; 91(2): 265-71.

  10. Lewin ML, Croft CB, Shprintzen RJ. Velopharyngeal insufficiency due to hypoplasia of the musculus uvulae and occult submucous cleft palate. Plastic Reconstr Surg 1980; 65(5): 585-91.

  11. Oskardóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004; 89(2): 148-51.

  12. Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010; 105(11): 1617-24.

  13. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998; 32(2): 492-8.

  14. McDaniel NL, Gutgesell HP. Ventricular septal defects. In: Allan HD, Gutgesell HP, Clark EB, Driscoll DJ (eds.). Moss and Adams’ Heart Disease in Infants, Children, and Adolescents. 5th. ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001.

  15. Ysunza A, Pamplona M, Silva-Rojas A, Mazón JJ, Ramírez E, Canún S, et al. Sensitivity and specificity of endoscopy for the detection of velocardiofacial syndrome. Rev Invest Clin 2004; 56(4): 454-9.

  16. Zarchi O, Attias J, Raveh E, Basel-Vanagaite L, Saporta L, Gothelf D. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes. Pediatr 2011; 158(2): 301-06. Disponible en: http://www ncbi nlm nih.gov/ pubmed/20846670

  17. Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Adv Pediatr 2001; 48: 39-73.

  18. Eleanor S, Elisabeth HW, Wayne AS. Clinical evaluation of language fundamentals, 3rd ed. Examiner’s manual. San Antonio: The Psychological Corporation; 1995.

  19. Shprintzen J, Goldberg B. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981; 67(2): 167-72.

  20. Briegel W, Schneider M†, Schwab KO. 22q11.2 deletion syndrome: behaviour problems of infants and parental stress. Child: care, health and development 2006; 33: 319-24.

  21. McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997; 1(2): 99-108.

  22. Ysunza A, Pamplona MC. Diagnóstico y tratamiento de los trastornos de articulación en el niño con paladar hendido. México: Editorial Porrúa; 2002.

  23. Hernández-López X, Márquez-Ávila C, Romero-Fernández F, Ysunza-Rivera A. Estandarización de técnicas y de reporte de la inspección directa del esfínter velofaríngeo. An ORL Mex 1994; 39: 17-22.

  24. Wulfsberg EA, Leana-Cox J, Neri G. What’s in a name?: Chromosome 22q abnormalities and DiGeorge, velocardiofacial and conotruncal anomalies face syndromes. Am J Med Genet 1996; 65(4): 317-19.

  25. Alkalay AA, Guo T, Montagna C, Digilio MC, Dallapiccola B, Marino B, Morrow B. Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A 2011; 155A(3): 548-54.

  26. Recto MR, Parness IA, Gelb BD, Lopez L, Lai WW. Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. Am J Cardiol 1997; 80: 1624-7.

  27. Toscano A, Anaclerio S, Digilio MC, Giannotti A, Fariello G, Dallapiccola B, et al. Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies. Eur J Pediatr 2002; 161(2): 116-7.

  28. Johnson MC, Hing A, Wood MK, Watson MS. Chromosome abnormalities in congenital heart disease. Am J Med Genet 1997; 70(3): 292-8.

  29. Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L. et al. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel adhesion receptor gene in its vicinity. Hum Mol Genet 1995; 4(4): 551-8.

  30. Mattos-Navarro P, Salvatierre-Frontalilla I, Bartos-Miklos. Síndrome de deleción 22q11, a propósito de un caso. Rev Soc Bol Ped 2007; 46(1): 24-8.

  31. Levy R, Goldman-Rakic PS. Segregation of working memory functions within the dorsolateral prefrontal cortex. Exp Brain Res 2000; 133(1): 23-32.

  32. Van Bon BW, Balciuniene J, Fruhman G, Sreenath SC, Broome DL, Cameron E, et al. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Human Genetics 2011; 19: 400-8.




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