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

Year 2005, Volume: 12 Issue: 4, 43 - 45, 16.04.2009

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

References

  • Tinanoff N. The Oral Cavity. In: Behrman R, Kliegman RM, l Jenson HB, eds. Nelson Textbook of Pediatrics (17th Ed) Philadelphia:Saunders, 2003; 1207-1208
  • Elias E.R, Tsai A.C.T, Manchester D.K, Genetic Dysmorphology. In: Hay W.W, Hayward A.R, Levin M.J, Sondheimer J.M, Current Pediatric Diagnosis Treatment. (16th Ed) 2003; 1042-43
  • Darmstadt G.L. and Sidbury R. The skin In: Behrman R, Kliegman RM, l Jenson HB, eds. Nelson Textbook of Pediatrics (17th Ed) Philadelphia:Saunders, 2003; 2167
  • Roelfsema N. M, Cobben J. M. The EEC syndrome: a literature study. Clin. Dysmorph 1996; 5: 115-127
  • Hasegawa T, Hasegawa Y, Asamura S, Nagai T, Tsuchiya Y, Ninomiya M, et al. EEC syndrome with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin. Genet. 1991; 40: 202-206
  • 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
Year 2005, Volume: 12 Issue: 4, 43 - 45, 16.04.2009

Abstract

References

  • Tinanoff N. The Oral Cavity. In: Behrman R, Kliegman RM, l Jenson HB, eds. Nelson Textbook of Pediatrics (17th Ed) Philadelphia:Saunders, 2003; 1207-1208
  • Elias E.R, Tsai A.C.T, Manchester D.K, Genetic Dysmorphology. In: Hay W.W, Hayward A.R, Levin M.J, Sondheimer J.M, Current Pediatric Diagnosis Treatment. (16th Ed) 2003; 1042-43
  • Darmstadt G.L. and Sidbury R. The skin In: Behrman R, Kliegman RM, l Jenson HB, eds. Nelson Textbook of Pediatrics (17th Ed) Philadelphia:Saunders, 2003; 2167
  • Roelfsema N. M, Cobben J. M. The EEC syndrome: a literature study. Clin. Dysmorph 1996; 5: 115-127
  • Hasegawa T, Hasegawa Y, Asamura S, Nagai T, Tsuchiya Y, Ninomiya M, et al. EEC syndrome with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin. Genet. 1991; 40: 202-206
  • 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
There are 8 citations in total.

Details

Primary Language English
Journal Section Case Reports
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
Published in Issue Year 2005 Volume: 12 Issue: 4

Cite

Vancouver Çetin H, Türedi A, Akkaya A, Dündar B, Öktem F. Akro-kardio-fasial sendromlu bir olgu( CCGE sendromu). Med J SDU. 2009;12(4):43-5.

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