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

Year 2021, , 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, , 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

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.