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Ginter O.V.

National Medical Research Center of Children’s Health, Moscow

Namazova-baranova L.S.

Scientific Centre of Children Health, Moscow, Russia

Mospan T.Ya.

National Medical Research Center of Children’s Health, Moscow

Jourkova N.V.

National Medical Research Center of Children’s Health, Moscow

Davydova I.V.

National Medical Research Center of Children’s Health, Moscow;
Russia

Pushkov A.A.

National Medical Research Center of Children’s Health, Moscow

Clinical case of congenital cleft palate in 22q11.2 deletion syndrome

Authors:

Ginter O.V., Namazova-baranova L.S., Mospan T.Ya., Jourkova N.V., Davydova I.V., Pushkov A.A.

More about the authors

Journal: Stomatology. 2019;98(1): 61‑63

Read: 2153 times


To cite this article:

Ginter OV, Namazova-baranova LS, Mospan TYa, Jourkova NV, Davydova IV, Pushkov AA. Clinical case of congenital cleft palate in 22q11.2 deletion syndrome. Stomatology. 2019;98(1):61‑63. (In Russ.)
https://doi.org/10.17116/stomat20199801161

References:

  1. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-339.e1. https://doi.org/10.1016/j.jpeds.2011.02.039
  2. Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013;92(3):439-447. https://doi.org/10.1016/j.ajhg.2013.01.018
  3. Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190-196. https://doi.org/10.1111/cen.12466
  4. Taylor SC, Morris G, Wilson D, et al. Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child. 2003;88(6):520-522. https://doi.org/10.1136/adc.88.6.520
  5. Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103(3):1020-11025. https://doi.org/10.1182/blood-2003-08-2824
  6. Glaser B, Mumme DL, Blasey C, et al. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr. 2002;140(6):753-758. https://doi.org/10.1067/mpd.2002.124774
  7. Gerdes M, Solot C, Wang PP, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet. 1999;85(2):127-133. https://doi.org/10.1002/(sici)1096-8628(19990716)85:2<127::aid-ajmg6>3.3.co;2-6
  8. Scambler PJ. The 22q11 deletion syndrome. Hum Mol Genet. 2000;9(16):2421-2426. https://doi.org/10.1093/hmg/9.16.2421
  9. McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics. 2001;108(6):e104. https://doi.org/10.1542/peds.108.6.e104
  10. Greenhalgh KL, Aligianis IA, Bromilow G, et al. 22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child. 2003;88(6):523-524. https://doi.org/10.1136/adc.88.6.523
  11. Digilio MC, Pacifico C, Tieri L, et al. Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol. 1999;33(5):329-333. https://doi.org/10.3109/03005369909090116
  12. Ford LC, Sulprizio SL, Rasgon BM. Otolaryngological manifestations of velocardiofacial syndrome: a retrospective review of 35 patients. Laryngoscope. 2000;110(3 Pt 1):362-367. https://doi.org/10.1097/00005537-200003000-00006
  13. Zemble R, Luning Prak E, McDonald K, et al. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010;136(3):409-418. https://doi.org/10.1016/j.clim.2010.04.011
  14. Green T, Gothelf D, Glaser B, et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 2009;48(11):1060-1068. https://doi.org/10.1097/CHI.0b013e3181b76683

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