A case of Ritscher-Schinzel syndrome or 3C syndrome

Authors

  • G. Deepika Department of Neonatology, JJM Medical College, Davangere, Karnataka, India
  • Chaitali R Raghoji Department of Neonatology, JJM Medical College, Davangere, Karnataka, India
  • R. C. Ashwini Department of Neonatology, JJM Medical College, Davangere, Karnataka, India
  • G. Guruprasad Department of Neonatology, JJM Medical College, Davangere, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20171742

Keywords:

Cardiac septal defect, Enlarged cisterna magna

Abstract

Ritscher Schinzel syndrome or cranio-cerebello-cardiac syndrome is characterized by cardiac defects, cerebellar hypoplasia and cranial defects. It is usually inherited as autosomal recessive pattern involving chromosome 8q24. the overall prognosis vary widely and it correlates with the cardiac disease present.

 

Author Biography

R. C. Ashwini, Department of Neonatology, JJM Medical College, Davangere, Karnataka, India

department of neonatology

References

Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet. 1989;35(3):205-8.

Leonardi ML, Pai GS, Wilkes B, Lebel RR Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genetics. 2001;102(3):237-42.

Kolanczyk M, Krawitz P, Hecht J. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel / 3C syndrome. European J Hum Genet. 2014:1-6.

Konyaa MN, Elmasb M, Glua SEE, Murat. A rare case of 3C disease: Ritscher-Schinzel syndrome case reports. Inter J Surg. 2015:130-3.

Kosaki K, Curry CJ, Roeder E, Jones KL.Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet. 1997;68(4):421-7.

Herman TE, Siegel MJ. Ritscher-Schinzel cranio-cerebello-cardiac syndrome. J Perinatol. 2008:710-3.

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Published

2017-04-25

Issue

Section

Case Reports