Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu)

Hasan Çetin; Ayşen Türedi; Ayça Akkaya; Bumin Dündar; Faruk Öktem

doi:10.17343/sdutfd.36415

Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu)

Abstract

SüleymanDemirel Üniversitesi TIP FAKÜLTESİ DERGİSİ: 2005 Aralık; 12(4) Akro-kardio-fasial sendromlu bir olgu ( CCGE sendromu) Hasan Çetin, Ayşen Türedi , Ayça Esra Akkaya Bumin Dündar Faruk Öktem Özet Yarık dudak ve damak embriyolojik, fonksiyonel ve genetik olarak farklı antitelerle yakından ilişkilidir. İzole anomali veya bir sendromun parçası olabilir. Sendromik veya nonsendromik formlarını ayırmak hastanın takibi açısından önemlidir. Yaşamının birinci gününde kız yenidoğan bebek yarık damak dudak nedeniyle yenidoğan yoğun bakım ünitesine kabul edildi. Fizik muayene ve radyolojik bulguları yarık damak, yarık dudak, sağ yarık el, sekundum atrial septal defekt ve patent duktus arteriosus, sağ grade 1, sol grade 3 vezikoüreteral reflü, konjenital dakriostenoz ve ince korpus kallozum varlığını ortaya koydu. Bu bulgular, akrokardiofasial sendrom (CCGE sendromu) ile uyumlu idi. Burada CCGE sendromu tanısı almış olan bir hastayı sunduk. Anahtar kelimeler: Yarık damak, yarık dudak, yarık el, akrokardiofasial sendrom, ürogenital anomali Abstract A case report of an acro cardio facial syndrome (ccge syndrome ) Cleft lip and palate is closely associated with different embryological, functional and genetic entities. It may be an isolated anomaly or a part of a syndrome. It is important to differantiate syndromic or nonsyndromic forms for following up of the patient. A female newborn infant in first day of life, admitted to neonatal intensive care unit, with cleft lip and palate. Physical examination and radiological findings revealed us the presence of cleft lip, palate and right cleft hand, secundum atrial septal defect and patent ductus arteriosus, right grade 1, left grade 3 vesicoüreteral reflux, congenital dacriostenozis, thin corpus collosum. This findings correlate with acrocardiofacial syndrome (CCGE syndrome). Here, we presented a patient with CCGE syndrome. Key words: Cleft lip, cleft palate, cleft hand, acrocardiofacial syndrome, urogenital anomaly

Keywords

Yarýk damak, yarýk dudak, yarýk el, akrokardiofasial sendrom, ürogenital anomali

References

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Richieri-Costa A, Orqoizas L.C. Ectrodactyly, cleft lip/palate, ventricular septal defect, micropenis and mental retardation in Brazilian child born to consaguineous parents. Rev. Bras. Genet 1987; 10: 787-792
Giannotti, A, Digilio M.C, Mingarelli R, Dallapiccola B. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). J. Med, Genet 1995; 32: 72-74
Guion-Almeida M.L, Zechi-Ceide R.M, Richieri- Costa A. Cleft lip/palate, abnormal ears, ectrodactili, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clin. Dysmorph 2000; 9: 269-272

Details

Primary Language

English

Subjects

-

Journal Section

-

Authors

Hasan Çetin This is me

Ayşen Türedi This is me

Ayça Akkaya This is me

Bumin Dündar This is me

Faruk Öktem This is me

Publication Date

April 16, 2009

Submission Date

April 16, 2009

Acceptance Date

-

Published in Issue

Year 2005 Volume: 12 Number: 4

DOI

https://doi.org/10.17343/sdutfd.36415

IZ

https://izlik.org/JA97CG37KG

Cite

RIS / Bibtex

APA

Çetin, H., Türedi, A., Akkaya, A., Dündar, B., & Öktem, F. (2009). Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Medical Journal of Süleyman Demirel University, 12(4), 43-45. https://doi.org/10.17343/sdutfd.36415

AMA

1.Çetin H, Türedi A, Akkaya A, Dündar B, Öktem F. Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Med J SDU. 2009;12(4):43-45. doi:10.17343/sdutfd.36415

Chicago

Çetin, Hasan, Ayşen Türedi, Ayça Akkaya, Bumin Dündar, and Faruk Öktem. 2009. “Akro-Kardio-Fasial Sendromlu Bir Olgu( CCGE Sendromu)”. Medical Journal of Süleyman Demirel University 12 (4): 43-45. https://doi.org/10.17343/sdutfd.36415.

EndNote

Çetin H, Türedi A, Akkaya A, Dündar B, Öktem F (April 1, 2009) Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Medical Journal of Süleyman Demirel University 12 4 43–45.

IEEE

[1]H. Çetin, A. Türedi, A. Akkaya, B. Dündar, and F. Öktem, “Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu)”, Med J SDU, vol. 12, no. 4, pp. 43–45, Apr. 2009, doi: 10.17343/sdutfd.36415.

ISNAD

Çetin, Hasan - Türedi, Ayşen - Akkaya, Ayça - Dündar, Bumin - Öktem, Faruk. “Akro-Kardio-Fasial Sendromlu Bir Olgu( CCGE Sendromu)”. Medical Journal of Süleyman Demirel University 12/4 (April 1, 2009): 43-45. https://doi.org/10.17343/sdutfd.36415.

JAMA

1.Çetin H, Türedi A, Akkaya A, Dündar B, Öktem F. Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Med J SDU. 2009;12:43–45.

MLA

Çetin, Hasan, et al. “Akro-Kardio-Fasial Sendromlu Bir Olgu( CCGE Sendromu)”. Medical Journal of Süleyman Demirel University, vol. 12, no. 4, Apr. 2009, pp. 43-45, doi:10.17343/sdutfd.36415.

Vancouver

1.Hasan Çetin, Ayşen Türedi, Ayça Akkaya, Bumin Dündar, Faruk Öktem. Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Med J SDU. 2009 Apr. 1;12(4):43-5. doi:10.17343/sdutfd.36415