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Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu

Yıl 2007, Cilt: 5 Sayı: 3, 125 - 128, 01.12.2007

Öz

Jarcho-Levin Sendromu segmental kostovertebral deformitelerin bulunduğu, çok sayıda sayısal ve yapısal vertebra ve kosta anomalilerinin yer aldığı konjenital bir sendromdur. Bu sendromda göğüs duvarının görünümü adeta “yengeç”e benzemektedir. Kostaların ve vertebraların yaygın deformiteleri ve anormal birleflme göstermeleri solunum sıkıntısına ve sık tekrarlayan solunum yolu enfeksiyonlarına neden olmaktadır. Spondilotorasik displazide baflta hemivertebra olmak üzere vertebradeformiteleri, spondilokostal displazide kosta deformiteleri görülürken, her ikisi de Jarcho-Levin sendromunun alt grubu olarak değerlendirilmektedir. Sık görülen bir tablo olmadığı için yarık damakla doğmufl olan spondilotorasik displazisi olan yenidoğan olgusu sunulmştur

Kaynakça

  • 1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 1938; 62: 216-26.
  • 2. Turnpenny PD, Bulman MP, Frayling TM et al. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999; 65: 175-82.
  • 3. Bannykh SI, Emery SC, Gerber JK et al. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. Am J Med Genet 2003; 120: 241-6.
  • 4. Roberts AP, Conner AN, Tolmie JL, Conner JM: Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. J Bone Joint Surg Br 1988; 70: 123-6
  • 5. Solomon L, Jimenez B, Reiner L. Spondylothoracic Dysostosis. Arch Pathol Lab Med. 1978;102:201-5.
  • 6. Pochaczevsky R, Ratner H, Perles D et al. Spondylothoracic dysplasia. Radiology 1971; 98: 53-8.
  • 7. Vazquez-Lopez M, Lopez-Conde M, Somoza-Rubio C et al. Anomalies of vertebra and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. 2005; 72: 275-7.
  • 8. Mortier GR, Lachman RS, Bocian M et al. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 1996; 61: 310-9.
  • 9. Teli M, Hosalkar H, Gill I, Noordeen H, Spondylocostal Dysostosis. Spine. 2004;29:1447-51.
  • 10. Dane C, Yayla M, Dane B. Prenatal Diagnosis of Jarcho-Levin Syndrome in the First Trimester. Gynecol Obstet Invest. 2006, 7; 63: 200-2.
  • 11. McCall CP, Hudgins L, Cloutier M et al. Jarcho-Levin syndrome: unusual survival in a classical case. Am J Med Genet 1994; 49: 328-32.
  • 12. Kulkarni ML, Navaz SR, Vani HN et al. Jarcho-Levin syndrome. Indian J Pediatr. 2006; 73: 245-7.
  • 13. Pamela SK, Deborah D, Susan AB et al. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 1991; 40: 264-70
  • 14. Ozkinay F, Akisu M, Oral R, Tansug N, Ozyurek R, Kultursay N. Spondylocostal Dysplasia and Cardiac Anomalies in one Dizygotic Twin. The Turkish J Pediatrics. 1996; 38: 381-4.
  • 15. Murr MM, Waziri MH, Schelper RL, Abu-Youself M. Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am J Med Genet 1992; 42: 761-5.
  • 16. Devod EA, Leroy JG, Braeckman JJ et al. Spondylocostal dysostosis and Urinary tract anomaly: Definition and Review of an Entity. Eur. J. Pediatr. 1978; 128: 7-15.
  • 17. Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M. The autosomal Recessive Form of Spondylocostal Dysostosis. Pediatric Radiology. 1974; 112: 673-5.
  • 18. Rodriguez LM, Garcia-Garcia I, Correa-Rivas MS et al. Pulmonary hypoplasia in Jarcho-Levin syndrome. P R Health Sci J. 2004; 23: 65-7.
  • 19. Hayek S, Burke SW, Boachie-Adjei O et al. Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient. J Pediatr Orthop B. 1999; 8: 150-3.
  • 20. Turnpenny PD, Whittock N, Duncan J, et al. Novel mutations in DLL3, a somito-genesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. JMed Genet 2003; 40: 333-9.
  • 21. Hull AD, James G, Pretorius DH. Detection of Jarcho-Levin syndrome at 12 weeks gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diagn 2001; 21: 390-4.
  • 22. Cornier AS, Ramirez N, Carlo S, Reiss A. Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr 2003; 15: 614-20.

A Newborn With Cleft Palate Who Was Diagnosed As Jarcho-Levin Syndrome

Yıl 2007, Cilt: 5 Sayı: 3, 125 - 128, 01.12.2007

Öz

Jarcho-Levin syndrome is a congenital, segmental costo-vertebral deformation with multiple vertebral and numerical orstructural rib abnormalities resulting in the 'crab-like' aspect of the chest. The clinical picture composed of thoracal vertebral and costal malformations and the affected vertebrae and costa were abnormally fused with each other and resulted inrespiratory difficulties with recurrent respiratory infections. In spondylothoracic dysplasia, malformed vertebral bodiesincluding hemivertebral are the major anomalies where as spondylocostal dysplasia refers to intrinsic anomalies of the ribsand both of them are defined as subgroups of Jarcho-Levin syndrome. Since it is a very rare entity, a newborn diagnosed asspondylothoracic dysplasia associated with cleft palate is presented

Kaynakça

  • 1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 1938; 62: 216-26.
  • 2. Turnpenny PD, Bulman MP, Frayling TM et al. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999; 65: 175-82.
  • 3. Bannykh SI, Emery SC, Gerber JK et al. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. Am J Med Genet 2003; 120: 241-6.
  • 4. Roberts AP, Conner AN, Tolmie JL, Conner JM: Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. J Bone Joint Surg Br 1988; 70: 123-6
  • 5. Solomon L, Jimenez B, Reiner L. Spondylothoracic Dysostosis. Arch Pathol Lab Med. 1978;102:201-5.
  • 6. Pochaczevsky R, Ratner H, Perles D et al. Spondylothoracic dysplasia. Radiology 1971; 98: 53-8.
  • 7. Vazquez-Lopez M, Lopez-Conde M, Somoza-Rubio C et al. Anomalies of vertebra and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. 2005; 72: 275-7.
  • 8. Mortier GR, Lachman RS, Bocian M et al. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 1996; 61: 310-9.
  • 9. Teli M, Hosalkar H, Gill I, Noordeen H, Spondylocostal Dysostosis. Spine. 2004;29:1447-51.
  • 10. Dane C, Yayla M, Dane B. Prenatal Diagnosis of Jarcho-Levin Syndrome in the First Trimester. Gynecol Obstet Invest. 2006, 7; 63: 200-2.
  • 11. McCall CP, Hudgins L, Cloutier M et al. Jarcho-Levin syndrome: unusual survival in a classical case. Am J Med Genet 1994; 49: 328-32.
  • 12. Kulkarni ML, Navaz SR, Vani HN et al. Jarcho-Levin syndrome. Indian J Pediatr. 2006; 73: 245-7.
  • 13. Pamela SK, Deborah D, Susan AB et al. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 1991; 40: 264-70
  • 14. Ozkinay F, Akisu M, Oral R, Tansug N, Ozyurek R, Kultursay N. Spondylocostal Dysplasia and Cardiac Anomalies in one Dizygotic Twin. The Turkish J Pediatrics. 1996; 38: 381-4.
  • 15. Murr MM, Waziri MH, Schelper RL, Abu-Youself M. Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am J Med Genet 1992; 42: 761-5.
  • 16. Devod EA, Leroy JG, Braeckman JJ et al. Spondylocostal dysostosis and Urinary tract anomaly: Definition and Review of an Entity. Eur. J. Pediatr. 1978; 128: 7-15.
  • 17. Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M. The autosomal Recessive Form of Spondylocostal Dysostosis. Pediatric Radiology. 1974; 112: 673-5.
  • 18. Rodriguez LM, Garcia-Garcia I, Correa-Rivas MS et al. Pulmonary hypoplasia in Jarcho-Levin syndrome. P R Health Sci J. 2004; 23: 65-7.
  • 19. Hayek S, Burke SW, Boachie-Adjei O et al. Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient. J Pediatr Orthop B. 1999; 8: 150-3.
  • 20. Turnpenny PD, Whittock N, Duncan J, et al. Novel mutations in DLL3, a somito-genesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. JMed Genet 2003; 40: 333-9.
  • 21. Hull AD, James G, Pretorius DH. Detection of Jarcho-Levin syndrome at 12 weeks gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diagn 2001; 21: 390-4.
  • 22. Cornier AS, Ramirez N, Carlo S, Reiss A. Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr 2003; 15: 614-20.
Toplam 22 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Research Article
Yazarlar

Tolga Altuğ Şen Bu kişi benim

Osman Öztekin Bu kişi benim

Ayşegül Bükülmez Bu kişi benim

Reşit Köken Bu kişi benim

Tevfik Demir Bu kişi benim

Adnan Narcı Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2007
Yayımlandığı Sayı Yıl 2007 Cilt: 5 Sayı: 3

Kaynak Göster

APA Şen, T. A., Öztekin, O., Bükülmez, A., Köken, R., vd. (2007). Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu. Güncel Pediatri, 5(3), 125-128.
AMA Şen TA, Öztekin O, Bükülmez A, Köken R, Demir T, Narcı A. Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu. Güncel Pediatri. Aralık 2007;5(3):125-128.
Chicago Şen, Tolga Altuğ, Osman Öztekin, Ayşegül Bükülmez, Reşit Köken, Tevfik Demir, ve Adnan Narcı. “Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu”. Güncel Pediatri 5, sy. 3 (Aralık 2007): 125-28.
EndNote Şen TA, Öztekin O, Bükülmez A, Köken R, Demir T, Narcı A (01 Aralık 2007) Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu. Güncel Pediatri 5 3 125–128.
IEEE T. A. Şen, O. Öztekin, A. Bükülmez, R. Köken, T. Demir, ve A. Narcı, “Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu”, Güncel Pediatri, c. 5, sy. 3, ss. 125–128, 2007.
ISNAD Şen, Tolga Altuğ vd. “Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu”. Güncel Pediatri 5/3 (Aralık 2007), 125-128.
JAMA Şen TA, Öztekin O, Bükülmez A, Köken R, Demir T, Narcı A. Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu. Güncel Pediatri. 2007;5:125–128.
MLA Şen, Tolga Altuğ vd. “Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu”. Güncel Pediatri, c. 5, sy. 3, 2007, ss. 125-8.
Vancouver Şen TA, Öztekin O, Bükülmez A, Köken R, Demir T, Narcı A. Yarık Damaklı Yenidoğan Olgumuzda Jarcho-Levin Sendromu - Olgu Sunumu. Güncel Pediatri. 2007;5(3):125-8.