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BibTex RIS Kaynak Göster
Yıl 2024, Cilt: 15 Sayı: 1, 29 - 31, 29.03.2024
https://doi.org/10.33706/jemcr.1395190

Öz

Kaynakça

  • 1. DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, et al. Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): report of a der (3) t (3; 12) (p25. 3; p13. 3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet Part A2005; 137(3): 276-82.
  • 2. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype–phenotype correlations. Am J Hum Genet 2004; 75: 610–23.
  • 3. Ayerza Casas A, PuisacUriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Cornelia de Lange syndrome: Congenital heart disease in 149 patients. Med Clin (Barc). 2017;149(7):300-2.
  • 4. Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, et al. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A. 2012;158a(10):2499-505.
  • 5. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet2004; 36(6): 636-41.
  • 6. Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clin Genet 2020; 97(1): 3-11.
  • 7. Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch DisChild 1999; 81(4): 333-6.
  • 8. Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange syndrome.2020.
  • 9. Husain K, Fitzgerald P, Lau G. Cecal volvulus in the Cornelia de Lange syndrome. J Pediatr Surg1994; 29(9): 1245-7.

Cornelia De Lange Syndrome with left heart hypoplasia: a case study

Yıl 2024, Cilt: 15 Sayı: 1, 29 - 31, 29.03.2024
https://doi.org/10.33706/jemcr.1395190

Öz

Cornelia de Lange syndrome (CdLS) is characterized by slow growth that can lead to short stature. Despite mutations in the NIPBL, RAD21 or SMC3 genes, CdLS is thought to be inherited in an autosomal dominant manner. Findings include intellectual disability and bone abnormalities in the upper extremities and distinct facial features. It has similar characteristics to autism spectrum disorder, which is a developmental condition that affects communication and social interaction. The physical and clinical findings of a one-and-a-half-year-old girl patient diagnosed with CdLS were reported. In addition to NIPBL gene mutation, atrioventricular septal defect (AVSD), an overriding aorta, and a hypoplastic left heart (HLH) were observed in our case. This study revealed the patient's physical and clinical findings consistent with the diagnosis of CdLS. Additionally emphasized HLH. The importance of performing corrective surgery immediately following the evaluation of congenital heart diseases in CdLS patients can be emphasized.

Kaynakça

  • 1. DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, et al. Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): report of a der (3) t (3; 12) (p25. 3; p13. 3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet Part A2005; 137(3): 276-82.
  • 2. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype–phenotype correlations. Am J Hum Genet 2004; 75: 610–23.
  • 3. Ayerza Casas A, PuisacUriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Cornelia de Lange syndrome: Congenital heart disease in 149 patients. Med Clin (Barc). 2017;149(7):300-2.
  • 4. Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, et al. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A. 2012;158a(10):2499-505.
  • 5. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet2004; 36(6): 636-41.
  • 6. Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clin Genet 2020; 97(1): 3-11.
  • 7. Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch DisChild 1999; 81(4): 333-6.
  • 8. Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange syndrome.2020.
  • 9. Husain K, Fitzgerald P, Lau G. Cecal volvulus in the Cornelia de Lange syndrome. J Pediatr Surg1994; 29(9): 1245-7.
Toplam 9 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Tıbbi Genetik (Kanser Genetiği hariç)
Bölüm Case Report
Yazarlar

Elif Sena Ozcan 0000-0002-4410-7622

Sevim Yener 0000-0002-7327-8228

Gulam Hekimoğlu 0000-0002-5027-6756

Nurullah Yücel 0000-0003-2689-4287

Zekeriya İlce 0000-0002-3473-5051

Yayımlanma Tarihi 29 Mart 2024
Gönderilme Tarihi 23 Kasım 2023
Kabul Tarihi 15 Şubat 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 15 Sayı: 1

Kaynak Göster

APA Ozcan, E. S., Yener, S., Hekimoğlu, G., Yücel, N., vd. (2024). Cornelia De Lange Syndrome with left heart hypoplasia: a case study. Journal of Emergency Medicine Case Reports, 15(1), 29-31. https://doi.org/10.33706/jemcr.1395190
AMA Ozcan ES, Yener S, Hekimoğlu G, Yücel N, İlce Z. Cornelia De Lange Syndrome with left heart hypoplasia: a case study. Journal of Emergency Medicine Case Reports. Mart 2024;15(1):29-31. doi:10.33706/jemcr.1395190
Chicago Ozcan, Elif Sena, Sevim Yener, Gulam Hekimoğlu, Nurullah Yücel, ve Zekeriya İlce. “Cornelia De Lange Syndrome With Left Heart Hypoplasia: A Case Study”. Journal of Emergency Medicine Case Reports 15, sy. 1 (Mart 2024): 29-31. https://doi.org/10.33706/jemcr.1395190.
EndNote Ozcan ES, Yener S, Hekimoğlu G, Yücel N, İlce Z (01 Mart 2024) Cornelia De Lange Syndrome with left heart hypoplasia: a case study. Journal of Emergency Medicine Case Reports 15 1 29–31.
IEEE E. S. Ozcan, S. Yener, G. Hekimoğlu, N. Yücel, ve Z. İlce, “Cornelia De Lange Syndrome with left heart hypoplasia: a case study”, Journal of Emergency Medicine Case Reports, c. 15, sy. 1, ss. 29–31, 2024, doi: 10.33706/jemcr.1395190.
ISNAD Ozcan, Elif Sena vd. “Cornelia De Lange Syndrome With Left Heart Hypoplasia: A Case Study”. Journal of Emergency Medicine Case Reports 15/1 (Mart 2024), 29-31. https://doi.org/10.33706/jemcr.1395190.
JAMA Ozcan ES, Yener S, Hekimoğlu G, Yücel N, İlce Z. Cornelia De Lange Syndrome with left heart hypoplasia: a case study. Journal of Emergency Medicine Case Reports. 2024;15:29–31.
MLA Ozcan, Elif Sena vd. “Cornelia De Lange Syndrome With Left Heart Hypoplasia: A Case Study”. Journal of Emergency Medicine Case Reports, c. 15, sy. 1, 2024, ss. 29-31, doi:10.33706/jemcr.1395190.
Vancouver Ozcan ES, Yener S, Hekimoğlu G, Yücel N, İlce Z. Cornelia De Lange Syndrome with left heart hypoplasia: a case study. Journal of Emergency Medicine Case Reports. 2024;15(1):29-31.