Case Report
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Dandy-Walker Malformasyonu İle Postaksiyel Polidaktili Birlikteliği: Yenidoğan Olgu Sunumu

Year 2021, Volume: 10 Issue: 3, 401 - 404, 21.12.2021
https://doi.org/10.47493/abantmedj.950391

Abstract

Dandy-Walker malformasyonu, serebellar vermis agenezisi veya hipoplazisi, 4. ventrikülün kistik dilatasyonu ve posterior fossa genişlemesi ile karakterize nadir bir konjenital malformasyondur. Hastaların yaklaşık %70-90’ında postnatal hidrosefali gelişir. Dandy-Walker malformasyonun postaksiyel polidaktili ile ilişkisi ise, olası bir otozomal resesif sendrom (OMIM 220220) olarak tanımlanmıştır. Bu vakada Dandy-Walker malformasyonu tanısı alan ve postaksiyel polidaktilisi olan bir infant nadir olması nedeniyle sunuldu.

References

  • 1. Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: A report of 56 further cases and a review of the literature [Internet]. Vol. 27, Prenatal Diagnosis. Prenat Diagn; 2007 [cited 2021 Mar 24]. p. 495–501. Available from: https://pubmed.ncbi.nlm.nih.gov/17367101/
  • 2. Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: Different modalities of treatment and outcome in 42 cases. Child’s Nerv Syst [Internet]. 2001 May [cited 2021 Mar 24];17(6):348–52. Available from: https://pubmed.ncbi.nlm.nih.gov/11417415/
  • 3. Zimmerman RA, Bilaniuk LT. Magnetic resonance evaluation of fetal ventriculomegaly-associated congenital malformations and lesions [Internet]. Vol. 10, Seminars in Fetal and Neonatal Medicine. W.B. Saunders Ltd; 2005 [cited 2021 Mar 24]. p. 429–43. Available from: https://pubmed.ncbi.nlm.nih.gov/15964253/
  • 4. Osenbach RK, Menezes AH. Diagnosis and management of the dandy-walker malformation: 30 years of experience. Pediatr Neurosurg [Internet]. 1992 [cited 2021 Mar 24];18(4):179–89. Available from: https://pubmed.ncbi.nlm.nih.gov/1472430/
  • 5. Scher MS, Belfar H, Martin J, Painter MJ. Destructive Brain Lesions of Presumed Fetal Onset: Antepartum Causes of Cerebral Palsy. Pediatrics. 1991;88(5).
  • 6. Ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HOM, Renier WO. Development and developmental disorders of the human cerebellum [Internet]. Vol. 250, Journal of Neurology. J Neurol; 2003 [cited 2021 Mar 24]. p. 1025–36. Available from: https://pubmed.ncbi.nlm.nih.gov/14504962/
  • 7. Sawaya R, McLaurin RL. Dandy-Walker syndrome. Clinical analysis of 23 cases. J Neurosurg [Internet]. 1981 [cited 2021 Mar 24];55(1):89–98. Available from: https://pubmed.ncbi.nlm.nih.gov/6972441/
  • 8. Krieger AJ, Detwiler J, Trooskin S. Respiration in an infant with the Dandy-Walker syndrome. Neurology [Internet]. 1974 [cited 2021 Mar 24];24(11):1064–7. Available from: https://pubmed.ncbi.nlm.nih.gov/4472854/
  • 9. Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: Review and diagnostic guidelines. In: American Journal of Medical Genetics, Part A [Internet]. Am J Med Genet A; 2007 [cited 2021 Mar 24]. p. 3314–23. Available from: https://pubmed.ncbi.nlm.nih.gov/17963220/
  • 10. Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet [Internet]. 1997 Feb 11 [cited 2021 Mar 24];68(4):421–7. Available from: https://pubmed.ncbi.nlm.nih.gov/9021015/
  • 11. Cohen MM. Perspectives on asymmetry: The Erickson lecture [Internet]. Vol. 158 A, American Journal of Medical Genetics, Part A. Wiley-Liss Inc.; 2012 [cited 2021 Mar 24]. p. 2981–98. Available from: https://pubmed.ncbi.nlm.nih.gov/23132826/
  • 12. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders [Internet]. Vol. 5, Orphanet Journal of Rare Diseases. Orphanet J Rare Dis; 2010 [cited 2021 Mar 24]. Available from: https://pubmed.ncbi.nlm.nih.gov/20615230/

Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report

Year 2021, Volume: 10 Issue: 3, 401 - 404, 21.12.2021
https://doi.org/10.47493/abantmedj.950391

Abstract

Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the 4th ventricle and enlargement of the posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% of the patients. The relationship of Dandy-Walker malformation with postaxial polydactyl has been defined as a possible autosomal recessive syndrome (OMIM 220220). Here, we present an infant with postaxial polydactyl accompanying Dandy-Walker malformation because of rare.

References

  • 1. Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: A report of 56 further cases and a review of the literature [Internet]. Vol. 27, Prenatal Diagnosis. Prenat Diagn; 2007 [cited 2021 Mar 24]. p. 495–501. Available from: https://pubmed.ncbi.nlm.nih.gov/17367101/
  • 2. Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: Different modalities of treatment and outcome in 42 cases. Child’s Nerv Syst [Internet]. 2001 May [cited 2021 Mar 24];17(6):348–52. Available from: https://pubmed.ncbi.nlm.nih.gov/11417415/
  • 3. Zimmerman RA, Bilaniuk LT. Magnetic resonance evaluation of fetal ventriculomegaly-associated congenital malformations and lesions [Internet]. Vol. 10, Seminars in Fetal and Neonatal Medicine. W.B. Saunders Ltd; 2005 [cited 2021 Mar 24]. p. 429–43. Available from: https://pubmed.ncbi.nlm.nih.gov/15964253/
  • 4. Osenbach RK, Menezes AH. Diagnosis and management of the dandy-walker malformation: 30 years of experience. Pediatr Neurosurg [Internet]. 1992 [cited 2021 Mar 24];18(4):179–89. Available from: https://pubmed.ncbi.nlm.nih.gov/1472430/
  • 5. Scher MS, Belfar H, Martin J, Painter MJ. Destructive Brain Lesions of Presumed Fetal Onset: Antepartum Causes of Cerebral Palsy. Pediatrics. 1991;88(5).
  • 6. Ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HOM, Renier WO. Development and developmental disorders of the human cerebellum [Internet]. Vol. 250, Journal of Neurology. J Neurol; 2003 [cited 2021 Mar 24]. p. 1025–36. Available from: https://pubmed.ncbi.nlm.nih.gov/14504962/
  • 7. Sawaya R, McLaurin RL. Dandy-Walker syndrome. Clinical analysis of 23 cases. J Neurosurg [Internet]. 1981 [cited 2021 Mar 24];55(1):89–98. Available from: https://pubmed.ncbi.nlm.nih.gov/6972441/
  • 8. Krieger AJ, Detwiler J, Trooskin S. Respiration in an infant with the Dandy-Walker syndrome. Neurology [Internet]. 1974 [cited 2021 Mar 24];24(11):1064–7. Available from: https://pubmed.ncbi.nlm.nih.gov/4472854/
  • 9. Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: Review and diagnostic guidelines. In: American Journal of Medical Genetics, Part A [Internet]. Am J Med Genet A; 2007 [cited 2021 Mar 24]. p. 3314–23. Available from: https://pubmed.ncbi.nlm.nih.gov/17963220/
  • 10. Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet [Internet]. 1997 Feb 11 [cited 2021 Mar 24];68(4):421–7. Available from: https://pubmed.ncbi.nlm.nih.gov/9021015/
  • 11. Cohen MM. Perspectives on asymmetry: The Erickson lecture [Internet]. Vol. 158 A, American Journal of Medical Genetics, Part A. Wiley-Liss Inc.; 2012 [cited 2021 Mar 24]. p. 2981–98. Available from: https://pubmed.ncbi.nlm.nih.gov/23132826/
  • 12. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders [Internet]. Vol. 5, Orphanet Journal of Rare Diseases. Orphanet J Rare Dis; 2010 [cited 2021 Mar 24]. Available from: https://pubmed.ncbi.nlm.nih.gov/20615230/
There are 12 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Case Report
Authors

Mustafa Özdemir 0000-0001-5644-8283

Tugay Tepe 0000-0002-7926-8442

Şerif Hamitoğlu 0000-0002-9904-3427

Ahmet İbrahim Kurtoğlu 0000-0001-8581-5652

Ferda Özlü 0000-0002-2092-8426

Hacer Yapıcıoğlu 0000-0001-6295-553X

Publication Date December 21, 2021
Submission Date June 10, 2021
Published in Issue Year 2021 Volume: 10 Issue: 3

Cite

APA Özdemir, M., Tepe, T., Hamitoğlu, Ş., Kurtoğlu, A. İ., et al. (2021). Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report. Abant Medical Journal, 10(3), 401-404. https://doi.org/10.47493/abantmedj.950391
AMA Özdemir M, Tepe T, Hamitoğlu Ş, Kurtoğlu Aİ, Özlü F, Yapıcıoğlu H. Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report. Abant Med J. December 2021;10(3):401-404. doi:10.47493/abantmedj.950391
Chicago Özdemir, Mustafa, Tugay Tepe, Şerif Hamitoğlu, Ahmet İbrahim Kurtoğlu, Ferda Özlü, and Hacer Yapıcıoğlu. “Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report”. Abant Medical Journal 10, no. 3 (December 2021): 401-4. https://doi.org/10.47493/abantmedj.950391.
EndNote Özdemir M, Tepe T, Hamitoğlu Ş, Kurtoğlu Aİ, Özlü F, Yapıcıoğlu H (December 1, 2021) Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report. Abant Medical Journal 10 3 401–404.
IEEE M. Özdemir, T. Tepe, Ş. Hamitoğlu, A. İ. Kurtoğlu, F. Özlü, and H. Yapıcıoğlu, “Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report”, Abant Med J, vol. 10, no. 3, pp. 401–404, 2021, doi: 10.47493/abantmedj.950391.
ISNAD Özdemir, Mustafa et al. “Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report”. Abant Medical Journal 10/3 (December 2021), 401-404. https://doi.org/10.47493/abantmedj.950391.
JAMA Özdemir M, Tepe T, Hamitoğlu Ş, Kurtoğlu Aİ, Özlü F, Yapıcıoğlu H. Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report. Abant Med J. 2021;10:401–404.
MLA Özdemir, Mustafa et al. “Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report”. Abant Medical Journal, vol. 10, no. 3, 2021, pp. 401-4, doi:10.47493/abantmedj.950391.
Vancouver Özdemir M, Tepe T, Hamitoğlu Ş, Kurtoğlu Aİ, Özlü F, Yapıcıoğlu H. Dandy-Walker Malformation With Postaxial Polydactyly: Newborn Case Report. Abant Med J. 2021;10(3):401-4.