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

A case report of an acro cardio facial syndrome (ccge syndrome)

Journal Name:

  • Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2005

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
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.
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Abstract (Original Language): 
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. pizik 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.
FULL TEXT (PDF): 
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  • 4
43-45
  • Turkish

REFERENCES

References: 

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