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A Case of Diastrophic Dysplasia Associated With Mega Cysterna Magna

Year 2007, Volume: 2007 Issue: 2, 158 - 161, 01.02.2007

Rıdvan Duran Ülfet Vatansever Ülfet Vatansever Nükhet Aladağ Betül Acunaş Beyhan Tüysüz

Abstract

Skeletal dysplasias comprise a large group of hereditary disorders characterized by abnormal growth, short stature and malformations and deformations of bone and cartilage. Diastrophic dysplasia is a skeletal disorder characterized by short stature, foot and spinal deformities, hitchhiker's thumb and ear abnormalities. Internal organs develop normally. The physical examination of the newborn referred to our hospital for multiple abnormalities revealed a poor general condition with cyanosis, disproportionate short stature, large front fontanel, short neck, misshapen upper ear and ‘cauliflower' deformity, cleft palate, hitchhiker's thumb, long and slim fingers except the thumb, proximally located toes, flexion contractures in the large joints, bilateral talipes equinovarus and left scrotal hernia. Mega cysterna magna was demonstrated in the posterior fossa in the cranial tomography. With these clinical and radiological findings, the newborn was diagnosed as diastrophic dysplasia. The infant was discharged on day 19 after genetic counseling to the family and was to be followed up by the newborn outpatient clinic. Turkish Başlık: Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu Anahtar Kelimeler: Yenidoğan; diastrofik displazi; mega sisterna magna; otostopçu başparmağı İskelet displazileri boy kısalığı, kemik ve kıkırdak malformasyon ve deformasyonları ile karakterize heterojen bir grup hastalığı kapsar. Diyastrofik displazi (DTD) kulak anomalileri, ayak ve spinal deformiteler, “otostopçu başparmağı” ve kısa boy ile karakterize bir hastalıktır. İç organ tutulumu yoktur. Multipl anomalilerinin olması nedeniyle kliniğimize sevk edilen yenidoğanın fizik muayenede; genel durum kötü, renk siyanotikti, orantısız boy kısalığı, geniş ön fontanel, kısa boyun, düşük kulak, kulak kepçesinde “karnı bahar” deformitesi, yarık damak, otostopçu başparmağı, başparmak dışında diğer el parmaklarında incelik ve uzunluk, proksimal yerleşimli ayak başparmağı, büyük eklemlerde fleksiyon kontraktürleri, iki taraflı talipes ekinovarus ve sol skrotal herni olduğu belirlendi. Kraniyal tomografide, posterior fossada mega sisterna magna tespit edildi. Bu klinik ve radyolojik bulgularla olguya DTD tanısı kondu. On dokuzuncu günde yenidoğan polikliniğinden takip edilmek üzere, aileye genetik danışmanlık verilerek taburcu edildi.

Keywords

Newborn; diastrophic dysplasia; mega cysterna magna hitchhiker's thumb

References

  • Tuysuz B. A new concept of skeletal dysplasias. Turk J Pediatr 2004;46:197-203.
  • Jones KL. Osteochondrodysplasias. In: Jones KL. editor. Smith’s recognizable patterns of human mal- formation. 5th ed. Philadelphia: W. B. Saunders, 1997. p. 376-7.
  • Helenius I, Remes V, Lohman M, Tallroth K, Poussa M, Helenius M, et al. Total knee arthroplasty in patients with diastrophic dysplasia. J Bone Joint Surg [Am] 2003;85:2097-102.
  • Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequi- librium mapping. Cell 1994;78:1073-87.
  • Bieganski T, Faflik J, Kozlowski K. Diastrophic dys- plasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora. Australas Radiol 2000;44:450-3.
  • Lapunzina P, Arberas C, Fernandez MC, Tello AM. Diastrophic dysplasia diagnosed in a case published 100 years ago. Am J Med Genet 1998;77:334-6.
  • Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, et al. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dyspla- sia. Clin Genet 1999;56:71-6.
  • Cartwright MJ, Eisenberg MB, Page LK. Posterior fossa arachnoid cyst presenting with an isolated twelfth nerve paresis. Case report and review of the literature. Clin Neurol Neurosurg 1991;93:69-72.
  • Bodensteiner JB, Gay CT, Marks WA, Hamza M, Scha- efer GB. Macro cisterna magna: a marker for maldeve- lopment of the brain? Pediatr Neurol 1988;4:284-6.
  • Langarica M, Peralta V. Psychosis associated to megacisterna magna. An Sist Sanit Navar 2005; 28:119-21. [Abstract]
  • Lachman R, Sillence D, Rimoin D, Horton W, Hall J, Scott C, et al. Diastrophic dysplasia: the death of a variant. Radiology 1981;140:79-86.

Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu

Year 2007, Volume: 2007 Issue: 2, 158 - 161, 01.02.2007

Rıdvan Duran Ülfet Vatansever Ülfet Vatansever Nükhet Aladağ Betül Acunaş Beyhan Tüysüz

Abstract

Keywords

Yenidoğan diastrofik displazi mega sisterna magna otostopçu başparmağı.

References

  • Tuysuz B. A new concept of skeletal dysplasias. Turk J Pediatr 2004;46:197-203.
  • Jones KL. Osteochondrodysplasias. In: Jones KL. editor. Smith’s recognizable patterns of human mal- formation. 5th ed. Philadelphia: W. B. Saunders, 1997. p. 376-7.
  • Helenius I, Remes V, Lohman M, Tallroth K, Poussa M, Helenius M, et al. Total knee arthroplasty in patients with diastrophic dysplasia. J Bone Joint Surg [Am] 2003;85:2097-102.
  • Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequi- librium mapping. Cell 1994;78:1073-87.
  • Bieganski T, Faflik J, Kozlowski K. Diastrophic dys- plasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora. Australas Radiol 2000;44:450-3.
  • Lapunzina P, Arberas C, Fernandez MC, Tello AM. Diastrophic dysplasia diagnosed in a case published 100 years ago. Am J Med Genet 1998;77:334-6.
  • Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, et al. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dyspla- sia. Clin Genet 1999;56:71-6.
  • Cartwright MJ, Eisenberg MB, Page LK. Posterior fossa arachnoid cyst presenting with an isolated twelfth nerve paresis. Case report and review of the literature. Clin Neurol Neurosurg 1991;93:69-72.
  • Bodensteiner JB, Gay CT, Marks WA, Hamza M, Scha- efer GB. Macro cisterna magna: a marker for maldeve- lopment of the brain? Pediatr Neurol 1988;4:284-6.
  • Langarica M, Peralta V. Psychosis associated to megacisterna magna. An Sist Sanit Navar 2005; 28:119-21. [Abstract]
  • Lachman R, Sillence D, Rimoin D, Horton W, Hall J, Scott C, et al. Diastrophic dysplasia: the death of a variant. Radiology 1981;140:79-86.
There are 11 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Rıdvan Duran This is me

Ülfet Vatansever This is me

Ülfet Vatansever This is me

Nükhet Aladağ This is me

Betül Acunaş This is me

Beyhan Tüysüz This is me

Publication Date February 1, 2007
Published in Issue Year 2007 Volume: 2007 Issue: 2

Cite

APA Duran, R., Vatansever, Ü., Vatansever, Ü., Aladağ, N., et al. (2007). Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu. Balkan Medical Journal, 2007(2), 158-161.
AMA Duran R, Vatansever Ü, Vatansever Ü, Aladağ N, Acunaş B, Tüysüz B. Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu. Balkan Medical Journal. February 2007;2007(2):158-161.
Chicago Duran, Rıdvan, Ülfet Vatansever, Ülfet Vatansever, Nükhet Aladağ, Betül Acunaş, and Beyhan Tüysüz. “Mega Sisterna Magna Ile Seyreden Bir Diyastrofik Displazi Olgusu”. Balkan Medical Journal 2007, no. 2 (February 2007): 158-61.
EndNote Duran R, Vatansever Ü, Vatansever Ü, Aladağ N, Acunaş B, Tüysüz B (February 1, 2007) Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu. Balkan Medical Journal 2007 2 158–161.
IEEE R. Duran, Ü. Vatansever, Ü. Vatansever, N. Aladağ, B. Acunaş, and B. Tüysüz, “Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu”, Balkan Medical Journal, vol. 2007, no. 2, pp. 158–161, 2007.
ISNAD Duran, Rıdvan et al. “Mega Sisterna Magna Ile Seyreden Bir Diyastrofik Displazi Olgusu”. Balkan Medical Journal 2007/2 (February 2007), 158-161.
JAMA Duran R, Vatansever Ü, Vatansever Ü, Aladağ N, Acunaş B, Tüysüz B. Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu. Balkan Medical Journal. 2007;2007:158–161.
MLA Duran, Rıdvan et al. “Mega Sisterna Magna Ile Seyreden Bir Diyastrofik Displazi Olgusu”. Balkan Medical Journal, vol. 2007, no. 2, 2007, pp. 158-61.
Vancouver Duran R, Vatansever Ü, Vatansever Ü, Aladağ N, Acunaş B, Tüysüz B. Mega Sisterna Magna ile Seyreden Bir Diyastrofik Displazi Olgusu. Balkan Medical Journal. 2007;2007(2):158-61.