Journals / Çocuk Cerrahisi Dergisi / 2005 / Cilt: 19 - Sayı: 2

CHARGE association: Case Report

CHARGE birlikteliği: Olgu sunumu

Pages
94–96
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Four of the 7 components of the CHARGE association were present in present case.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:CHARGE association is a combination of a number of related birth defects and acronyme of the first letter of each defect.
📊
Key Findings & Data:A 5-year-old male admitted to our hospital with complaint of passing urine through a stenotic hypospadic meatus.
💡
Conclusion & Impact:Four of the 7 components of the CHARGE association were present in present case.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Ürogenital anomaliler · Erkek · Hipospadyas

Abstract

CHARGE association is a combination of a number of related birth defects and acronyme of the first letter of each defect. A 5-year-old male admitted to our hospital with complaint of passing urine through a stenotic hypospadic meatus. Physical examination showed that his weight was 10-20th percentiles and his height was 10-20th percentiles. He had a left sided bad ear. Ophthalmologic examination revealed microphthalmia, iris coloboma, choroid coloboma and lens coloboma of both eyes. External genital examination revealed a coronal hypospadias and a ventral chordee. His mental development was found 3.5 years in social, 4 years in motor skills. An urethroplasty was performed by the Snodgrass technique. Four of the 7 components of the CHARGE association were present in present case.

Özet

CHARGE birlikteliği, birbiri ile ilişkili doğumsal anomaliler kombinasyonudur ve bu anomalilerin baş harflerinden oluşmaktadır. 5 yaşında erkek olgu kliniğimize hipospadias nedeniyle başvurmuştur. Olgunun yapılan fizik muayenesinde ağırlık 10-25 persantil, boy 10-25 persantildir. Olguda sol kulakta protrüzyon; koronal hipospadias ve ventral kordi; her iki gözde iris kolobomu, koroid kolobomu, lens kolobomu ve mikroftalmi bulunmaktadır. Gelişim ince devinsel alanda 3,5 yaş; dil ve kaba devinsel alanda 4 yaş olarak saptanmıştır. Olguya Snodgrass yöntemi ile hipospadias onarımı ve kordi düzeltilmesi yapıldı. Olguda CHARGE birlikteliği tanısı yedi ana bileşenin en az dördünün varlığı ile konulmuştur. Çocukluk çağı anomalileri ve çocuk cerrahisi hastalıkları içinde ender görülen bir anomali olması nedeniyle olgu sunulmuştur.

🔖

Cite This Article

YILMAZ, Ö., ARSLAN, O. A., GENÇ, A., KÜÇÜKOĞLU, T., GÜNŞAR, C., ŞENCAN, A., MİR, E., TANELİ, C. (2005). CHARGE association: Case Report. Çocuk Cerrahisi Dergisi, Cilt: 19 - Sayı: 2, 94–96. https://ajindex.com/articles/167147

References (1)

  1. Pagon RA, Graham JM Jr, Zonana J et al: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223, 1981 2. Hall BD: Choanal atresia and associated multiple anomalies. J Pediatr 95:395, 1979 3. SL Davenport, Hefner MA, Mitchell JA: The spectrum of clinical features in CHARGE syndrome. Clin Genet 29:298, 1986 4. Harvey AS, Leaper PM, Bankier A: CHARGE association: clinical manifestations and developmental outcome. Am J Med Genet 39:48, 1991 5. Blake KD, Russell-Eggitt IM, Morgan DW et al: Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 65:217, 1990 6. Tellier A, Amiel J, Delezoide AL et al: Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet 93:85, 2000 7. Tellier A, Lyonnet S, Cormier V et al: Increased paternal age in CHARGE association. Clin Genet 50:548, 1996 8. Tellier AL, Cormier-Daire V, Abadie V et al: CHARGE syndrome: report of 47 cases and review. Am J Med Genet 76:402, 1998 9. Chung GW, Edwards AO, Schimmenti LA et al: Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthal 132:910, 2001 10. Devriendt K, Matthijs G, Van Damme B et al: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet 103:149, 1998 11. Frankenburg WK, Camp BW, Van Natta PA et al: Reliability and stability of the Denver Developmental Screening Test.Child Dev 42:1315, 1971 12. Bryant GM: The developing child. Use of the Denver Developmental Screening Test by health visitors. Health Visit 53:2, 1980 13. Ragan DC, Casale AJ, Rink RC et al: Genitourinary anomalies in the CHARGE associations. J Urol 161:622, 1999 14. Khadilkar VV, Cameron FJ, Stanhope R: Growth failure and pituitary function in CHARGE and VATER associations. Arch Dis Child 80:167, 1999 15. Coniglio JU, Manzione JV, Hengerer AS: Anatomic findings and management of choanal atresia and the CHARGE association. Ann Orol Rhinol Laryngol 97:448,1988 16. Ho CK, Kaufman RL, Podos SM: Ocular coloboma, cardiac defect, and other anomalies: a study of seven cases including two sibs. J Med Genet 12:289, 1975 17. Chestler RJ, France TD: Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology 95:1613, 1988.