BibTex RIS Kaynak Göster

-

Yıl 2013, Cilt: 26 Sayı: 1, 39 - 42, 30.09.2015

Aysu Türkmen Karaağaç Ayşe Yıldırım Naci Öner

https://doi.org/10.5472/MMJ.2012.02451.1
Cited By: 1

Öz

CHARGE is a rare syndrome characterized by association of pathogenetically related multiple congenital anomalies with six main clinical features. In this case report, we present a 2-month-old female baby admitted to our hospital for surgical correction of her congenital heart anomalies (aortic coarctation, bicuspid aortic valve and patent ductus arteriosus). In addition, she had bilateral optic disc and choroid colobomas, operated bilateral choanal atresia, right facial nerve paralysis, ear anomaly and growth retardation to make the diagnosis of CHARGE syndrome. As children with CHARGE require multiple surgical corrections and the risk of congenital anomalies increases in subsequent pregnancies, it is important to recognize and inform the family about this syndrome as soon as possible. Early interventions for correction of accompanying congenital anomalies like choanal atresia can be life saving. Therefore, we wanted to highlight CHARGE syndrome and review the relevant literature

Anahtar Kelimeler

Congenital Multiple anomalies CHARGE

Kaynakça

  • 1. Graham Jr JM. A recognizable syndrome within CHARGE association. Hall-Hittner syndrome. Am J Med Genet 2001; 99:120–3. doi:10.1002/1096-8628(2000)
  • 2. Pagon RA, Graham Jr JM, Zonana JY, Young SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies. CHARGE association. J Pediat 1981; 99:223–7. doi:10.1016/S0022- 3476(81)80454-4
  • 3. Lubinsky MS. Properties of associations. Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 1994; 49:21–5. doi:10.1002/ ajmg.1320490106
  • 4. Allouche C, Sarda P. The CHARGE association. Pediatrie 1989; 44:391-5.
  • 5. Blake KD, Prasad C. CHARGE syndrome. Orphanet Journal of Rare Diseases 2006 Sep 7; 1:34. Review.
  • 6. Clementi M, Tenconi R. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet 1991; 41: 246-50.
  • 7. Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome:report of 47 cases and review. Am J Med Genet 1998; 76: 402–9.
  • 8. Blake KD, Davenport SLH, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. doi:10.1177/000992289803700302
  • 9. Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986; 29:298-310. doi:10.1111/j.1399-0004.1986.tb01258.x
  • 10. İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M. CHARGE syndrome together with middle aortic syndrome. Gaziantep Med J 2012; 18:109- 12.
  • 11. Leitch CA. Growth, nutrition and energy expenditure in pediatric heart failure. Prog Pediatr Cardiol 2000;11:195-202.
  • 12. Searle L, Blake KD. CHARGE syndrome from birth to adulthood:an individual reported from 0 to 33 years. Am J Med Genet A 2005;133:344-9. doi:10.1002/ajmg.a.30565
  • 13. Stromland K, Sjogreen L, Johansson M, et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A 2005; 133:331–9. doi:10.1002/ajmg.a.30563
  • 14. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006;78:303-14. doi:10.1086/500273
  • 15. Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA. Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge (DGS),velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 1992;51 (Suppl):A3.
  • 16. Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 2004; 41: e94. doi:10.1136/jmg.2003.017640
  • 17. Tellier AL, Lyonnet S, Cormier-Daire V, et al. Increased paternal age in CHARGE association. Clin Genet 1996;50:548-50.
  • 18. Becker R, Stiemer B, Neumann L, Entezami M. Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association. Fetal Diagn Ther 2001;16:280- 3. doi: 10.1159/000053928
  • 19. Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006; 43:211-7. doi:10.1136/jmg.2005.036160
  • 20. Bergman J, Janssen N, Hoefsloot. L.CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011; 48:334-42. doi:10.1136/jmg.2010.087106

CHARGE sendromu tanısı alan 2 aylık bir bebek

Yıl 2013, Cilt: 26 Sayı: 1, 39 - 42, 30.09.2015

Aysu Türkmen Karaağaç Ayşe Yıldırım Naci Öner

https://doi.org/10.5472/MMJ.2012.02451.1
Cited By: 1

Öz

CHARGE sendromu patogenetik olarak ilintili konjenital
anomalilerden oluşan ve 6 ana klinik özelliği bulunan nadir bir
sendromdur. Burada hastanemize doğumsal kalp anomalilerinin
(aort koarktasyonu, biküspid aortik kapak ve patent duktus
arteriosus) cerrahi olarak düzeltilmesi için kabul edilen bir kız
olguyu sunduk. Olgumuzun kalp anomalisine ek olarak bilateral
optik disk ve koroid kolobomu, opere edilmiş çift taraflı koanal
atrezisi, sağ fasiyal paralizisi, kulak anomalisi ve büyüme geriliği
mevcuttu. Bu bulgularla hastamıza CHARGE sendromu tanısını
koyduk. CHARGE sendromlu çocuklar çoklu cerrahi girişimlere
ihtiyaç duydukları ve annenin sonraki gebeliklerinde de konjenital
anomalili bebek riski arttığı için bu sendromu erken tanımak, aileyi
bilgilendirmek ve genetik danışmanlık vermek oldukça önemlidir.
Eşlik eden koanal atrezi ve kardiyak anomaliler gibi konjenital
malformasyonlara erken müdahele etmek hayat kurtarıcı olacaktır.
Bu nedenle, CHARGE sendromunu literatür eşliğinde yeniden
hatırlatmak istedik.

Anahtar Kelimeler

Doğumsal Çoklu anomali CHARGE

Kaynakça

  • 1. Graham Jr JM. A recognizable syndrome within CHARGE association. Hall-Hittner syndrome. Am J Med Genet 2001; 99:120–3. doi:10.1002/1096-8628(2000)
  • 2. Pagon RA, Graham Jr JM, Zonana JY, Young SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies. CHARGE association. J Pediat 1981; 99:223–7. doi:10.1016/S0022- 3476(81)80454-4
  • 3. Lubinsky MS. Properties of associations. Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 1994; 49:21–5. doi:10.1002/ ajmg.1320490106
  • 4. Allouche C, Sarda P. The CHARGE association. Pediatrie 1989; 44:391-5.
  • 5. Blake KD, Prasad C. CHARGE syndrome. Orphanet Journal of Rare Diseases 2006 Sep 7; 1:34. Review.
  • 6. Clementi M, Tenconi R. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet 1991; 41: 246-50.
  • 7. Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome:report of 47 cases and review. Am J Med Genet 1998; 76: 402–9.
  • 8. Blake KD, Davenport SLH, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. doi:10.1177/000992289803700302
  • 9. Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986; 29:298-310. doi:10.1111/j.1399-0004.1986.tb01258.x
  • 10. İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M. CHARGE syndrome together with middle aortic syndrome. Gaziantep Med J 2012; 18:109- 12.
  • 11. Leitch CA. Growth, nutrition and energy expenditure in pediatric heart failure. Prog Pediatr Cardiol 2000;11:195-202.
  • 12. Searle L, Blake KD. CHARGE syndrome from birth to adulthood:an individual reported from 0 to 33 years. Am J Med Genet A 2005;133:344-9. doi:10.1002/ajmg.a.30565
  • 13. Stromland K, Sjogreen L, Johansson M, et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A 2005; 133:331–9. doi:10.1002/ajmg.a.30563
  • 14. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006;78:303-14. doi:10.1086/500273
  • 15. Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA. Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge (DGS),velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 1992;51 (Suppl):A3.
  • 16. Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 2004; 41: e94. doi:10.1136/jmg.2003.017640
  • 17. Tellier AL, Lyonnet S, Cormier-Daire V, et al. Increased paternal age in CHARGE association. Clin Genet 1996;50:548-50.
  • 18. Becker R, Stiemer B, Neumann L, Entezami M. Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association. Fetal Diagn Ther 2001;16:280- 3. doi: 10.1159/000053928
  • 19. Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006; 43:211-7. doi:10.1136/jmg.2005.036160
  • 20. Bergman J, Janssen N, Hoefsloot. L.CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011; 48:334-42. doi:10.1136/jmg.2010.087106
Toplam 20 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Olgu Sunumu
Yazarlar

Aysu Türkmen Karaağaç Bu kişi benim

Ayşe Yıldırım Bu kişi benim

Naci Öner Bu kişi benim

Yayımlanma Tarihi 30 Eylül 2015
Yayımlandığı Sayı Yıl 2013 Cilt: 26 Sayı: 1

Kaynak Göster

APA Türkmen Karaağaç, A., Yıldırım, A., & Öner, N. (2015). CHARGE sendromu tanısı alan 2 aylık bir bebek. Marmara Medical Journal, 26(1), 39-42. https://doi.org/10.5472/MMJ.2012.02451.1
AMA Türkmen Karaağaç A, Yıldırım A, Öner N. CHARGE sendromu tanısı alan 2 aylık bir bebek. Marmara Med J. Ekim 2015;26(1):39-42. doi:10.5472/MMJ.2012.02451.1
Chicago Türkmen Karaağaç, Aysu, Ayşe Yıldırım, ve Naci Öner. “CHARGE Sendromu tanısı Alan 2 aylık Bir Bebek”. Marmara Medical Journal 26, sy. 1 (Ekim 2015): 39-42. https://doi.org/10.5472/MMJ.2012.02451.1.
EndNote Türkmen Karaağaç A, Yıldırım A, Öner N (01 Ekim 2015) CHARGE sendromu tanısı alan 2 aylık bir bebek. Marmara Medical Journal 26 1 39–42.
IEEE A. Türkmen Karaağaç, A. Yıldırım, ve N. Öner, “CHARGE sendromu tanısı alan 2 aylık bir bebek”, Marmara Med J, c. 26, sy. 1, ss. 39–42, 2015, doi: 10.5472/MMJ.2012.02451.1.
ISNAD Türkmen Karaağaç, Aysu vd. “CHARGE Sendromu tanısı Alan 2 aylık Bir Bebek”. Marmara Medical Journal 26/1 (Ekim 2015), 39-42. https://doi.org/10.5472/MMJ.2012.02451.1.
JAMA Türkmen Karaağaç A, Yıldırım A, Öner N. CHARGE sendromu tanısı alan 2 aylık bir bebek. Marmara Med J. 2015;26:39–42.
MLA Türkmen Karaağaç, Aysu vd. “CHARGE Sendromu tanısı Alan 2 aylık Bir Bebek”. Marmara Medical Journal, c. 26, sy. 1, 2015, ss. 39-42, doi:10.5472/MMJ.2012.02451.1.
Vancouver Türkmen Karaağaç A, Yıldırım A, Öner N. CHARGE sendromu tanısı alan 2 aylık bir bebek. Marmara Med J. 2015;26(1):39-42.

Cited By

Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation
Cureus
Batool Wael Alnahar
https://doi.org/10.7759/cureus.12291