PDF Zotero Mendeley EndNote BibTex Kaynak Göster

-

Yıl 2008, Cilt 39, Sayı 3, 145 - 147, 01.04.2008

Öz

-

Kaynakça

  • 1. Travaline JM, Cordova F. Agenesis of the diaphragm. Am J Med 1996,100:585
  • 2. Valente A, Brereton RJ. Unilateral agenesis of the diaphragm. JPediatrSurg 1987;22:848-850
  • 3. Jasnosz KM, Hermansen SC, Snider C, Sang K Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia. Am JPerinatol 1994,11:340343
  • 4. Cunniff C, Jones KL, Jones MC. Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr 1990,116:258261
  • 5. FauzaDO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact onprognosis. JPediatr Surg 1994;29:1113-1117
  • 6. Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchil, Lander A, Roberts E, Kilby MD. Congenital malformations ofthe diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. PrenatDiagn 2004; 24:596604
  • 7. Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WDjr, Hirschl RB, Lally KP. Bilateral congenital diaphragmatic hernia. J Pediatr Surg 2003;38:522-524
  • 8. Sweed Y Puri P. Congenital diaphragmatic hernia: influence of associated malformations on survival. Arch Dis Child 1993;69:68-70
  • 9. Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular abnormalities associated with congenital diaphragmatic hernia. Pediatrics 1976;57:92-97
  • 10. Harrison MR, Adzick NS, Nakayama DK, deLorimier AA. Fetaldiaphragmatic hernia:fetal but fixable. Semin Perinatol 1985;9:103-112
  • 11. CarmiR, Meiznerl, KatzM. Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? Am J Med Genet 1990;36:313-315
  • 12. Austin-Ward ED, Taucher SC. Familial congenital diaphragmatic hernia: is an imprinting mechanism involved? J Med Genet 1999;36:578-579
  • 13. Crane JP. Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. Clin Genet 1979;16:244-252
  • 14. Sripathi V, Beasley SW. Familial occurrence of complete agenesis of the diaphragm. J Paediatr ChildHealth 1992;28;190-1991

Bilateral agenesis of diaphragm with agenesis of left lung and gall bladder

Yıl 2008, Cilt 39, Sayı 3, 145 - 147, 01.04.2008

Öz

Bilateral agenesis of diaphragm with agenesis of left lung and gall bladder Background: Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and associated frequently with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. Case: A 2240g male infant was born at 35 weeks' gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. He experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gall bladder agenesis. Cytogenetic studies showed normal male karyotype. Conclusions: Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Also, bilateral agenesis of the diaphragm associated with gall bladder and unilateral pulmonary agenesis is a rare entity and its clinical significance needsfurther investigation.

Kaynakça

  • 1. Travaline JM, Cordova F. Agenesis of the diaphragm. Am J Med 1996,100:585
  • 2. Valente A, Brereton RJ. Unilateral agenesis of the diaphragm. JPediatrSurg 1987;22:848-850
  • 3. Jasnosz KM, Hermansen SC, Snider C, Sang K Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia. Am JPerinatol 1994,11:340343
  • 4. Cunniff C, Jones KL, Jones MC. Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr 1990,116:258261
  • 5. FauzaDO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact onprognosis. JPediatr Surg 1994;29:1113-1117
  • 6. Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchil, Lander A, Roberts E, Kilby MD. Congenital malformations ofthe diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. PrenatDiagn 2004; 24:596604
  • 7. Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WDjr, Hirschl RB, Lally KP. Bilateral congenital diaphragmatic hernia. J Pediatr Surg 2003;38:522-524
  • 8. Sweed Y Puri P. Congenital diaphragmatic hernia: influence of associated malformations on survival. Arch Dis Child 1993;69:68-70
  • 9. Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular abnormalities associated with congenital diaphragmatic hernia. Pediatrics 1976;57:92-97
  • 10. Harrison MR, Adzick NS, Nakayama DK, deLorimier AA. Fetaldiaphragmatic hernia:fetal but fixable. Semin Perinatol 1985;9:103-112
  • 11. CarmiR, Meiznerl, KatzM. Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? Am J Med Genet 1990;36:313-315
  • 12. Austin-Ward ED, Taucher SC. Familial congenital diaphragmatic hernia: is an imprinting mechanism involved? J Med Genet 1999;36:578-579
  • 13. Crane JP. Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. Clin Genet 1979;16:244-252
  • 14. Sripathi V, Beasley SW. Familial occurrence of complete agenesis of the diaphragm. J Paediatr ChildHealth 1992;28;190-1991

Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi

Yıl 2008, Cilt 39, Sayı 3, 145 - 147, 01.04.2008

Öz

Giriş: Konjenital diyafragma hernisi sık görülen doğumsal anomalilerden biri olmasına rağmen, bilateral total diyafragma agenezisi oldukça nadirdir ve sıklıkla diğer major anomaliler ile birliktelik göstermektedir. Makalemizde major konjenital anomaliler ile birlikte bilateral diayafragma agenezisi olan bir vakayı sunduk. Vaka: 2240 gram ağırlığında, 35 gestasyon haftasındaki erkek bebek 34 yaşındaki anneden acil sezaryanla doğurtuldu. Prenatal takip yetersizdi ve 1. düzey USG'dapolihidramniyos saptanmıştı. Doğum odasında solunum sıkıntısı olan bebek entübe edildi. 1, 5, ve 20. dakika Apgarları sırasıyla 2/1/1 olan hasta, ressusitasyona cevap vermedi ve postnatal 2. saatinde kaybedildi. Otopside bilateral diyafragma agenezisi ile birlikte sağ pulmoner hipoplazi, sol pulmoner agenezi, multiple kardiyak anomali ve safra kesesi agenezisi tespit edildi. Sitogenetik çalışmalarda normal erkek karyotip saptandı. Sonuç: Bilateral diyafragma agenezisi mortalitesi yüksek olan bir konjenital anomalidir veprognoz hastaların kardiyopulmoner fonksiyonlarına bağlıdır. Ayrıca safra kesesi agenezisi ve pulmoner agenezi ile birlikteliği oldukça nadirdir. Klinik açıdan bu durum daha ileri araştırma gerektirebilir.

Kaynakça

  • 1. Travaline JM, Cordova F. Agenesis of the diaphragm. Am J Med 1996,100:585
  • 2. Valente A, Brereton RJ. Unilateral agenesis of the diaphragm. JPediatrSurg 1987;22:848-850
  • 3. Jasnosz KM, Hermansen SC, Snider C, Sang K Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia. Am JPerinatol 1994,11:340343
  • 4. Cunniff C, Jones KL, Jones MC. Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr 1990,116:258261
  • 5. FauzaDO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact onprognosis. JPediatr Surg 1994;29:1113-1117
  • 6. Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchil, Lander A, Roberts E, Kilby MD. Congenital malformations ofthe diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. PrenatDiagn 2004; 24:596604
  • 7. Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WDjr, Hirschl RB, Lally KP. Bilateral congenital diaphragmatic hernia. J Pediatr Surg 2003;38:522-524
  • 8. Sweed Y Puri P. Congenital diaphragmatic hernia: influence of associated malformations on survival. Arch Dis Child 1993;69:68-70
  • 9. Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular abnormalities associated with congenital diaphragmatic hernia. Pediatrics 1976;57:92-97
  • 10. Harrison MR, Adzick NS, Nakayama DK, deLorimier AA. Fetaldiaphragmatic hernia:fetal but fixable. Semin Perinatol 1985;9:103-112
  • 11. CarmiR, Meiznerl, KatzM. Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? Am J Med Genet 1990;36:313-315
  • 12. Austin-Ward ED, Taucher SC. Familial congenital diaphragmatic hernia: is an imprinting mechanism involved? J Med Genet 1999;36:578-579
  • 13. Crane JP. Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. Clin Genet 1979;16:244-252
  • 14. Sripathi V, Beasley SW. Familial occurrence of complete agenesis of the diaphragm. J Paediatr ChildHealth 1992;28;190-1991

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Leyla KARADENİZ Bu kişi benim


Şirin GÜVEN Bu kişi benim


Enver ATAY Bu kişi benim


Fahri OVALI Bu kişi benim


Osman PEKTAŞ Bu kişi benim


Ayşenur CELAYİR Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2008
Yayınlandığı Sayı Yıl 2008, Cilt 39, Sayı 3

Kaynak Göster

Bibtex @ { zktipb236935, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2008}, volume = {39}, pages = {145 - 147}, doi = {10.16948/zktb.93605}, title = {Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi}, key = {cite}, author = {Karadeniz, Leyla and Güven, Şirin and Atay, Enver and Ovalı, Fahri and Pektaş, Osman and Celayir, Ayşenur} }
APA Karadeniz, L. , Güven, Ş. , Atay, E. , Ovalı, F. , Pektaş, O. & Celayir, A. (2008). Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi . Zeynep Kamil Tıp Bülteni , 39 (3) , 145-147 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22068/236935
MLA Karadeniz, L. , Güven, Ş. , Atay, E. , Ovalı, F. , Pektaş, O. , Celayir, A. "Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi" . Zeynep Kamil Tıp Bülteni 39 (2008 ): 145-147 <https://dergipark.org.tr/tr/pub/zktipb/issue/22068/236935>
Chicago Karadeniz, L. , Güven, Ş. , Atay, E. , Ovalı, F. , Pektaş, O. , Celayir, A. "Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi". Zeynep Kamil Tıp Bülteni 39 (2008 ): 145-147
RIS TY - JOUR T1 - Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi AU - Leyla Karadeniz , Şirin Güven , Enver Atay , Fahri Ovalı , Osman Pektaş , Ayşenur Celayir Y1 - 2008 PY - 2008 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 145 EP - 147 VL - 39 IS - 3 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2021 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi %A Leyla Karadeniz , Şirin Güven , Enver Atay , Fahri Ovalı , Osman Pektaş , Ayşenur Celayir %T Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi %D 2008 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 39 %N 3 %R %U
ISNAD Karadeniz, Leyla , Güven, Şirin , Atay, Enver , Ovalı, Fahri , Pektaş, Osman , Celayir, Ayşenur . "Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi". Zeynep Kamil Tıp Bülteni 39 / 3 (Nisan 2008): 145-147 .
AMA Karadeniz L. , Güven Ş. , Atay E. , Ovalı F. , Pektaş O. , Celayir A. Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi. Zeynep Kamil Tıp Bülteni. 2008; 39(3): 145-147.
Vancouver Karadeniz L. , Güven Ş. , Atay E. , Ovalı F. , Pektaş O. , Celayir A. Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi. Zeynep Kamil Tıp Bülteni. 2008; 39(3): 145-147.
IEEE L. Karadeniz , Ş. Güven , E. Atay , F. Ovalı , O. Pektaş ve A. Celayir , "Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi", Zeynep Kamil Tıp Bülteni, c. 39, sayı. 3, ss. 145-147, Nis. 2008, doi:10.16948/zktb.93605