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  • Imaging Case Report
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3-C Ritscher–Schinzel syndrome with spinal subarachnoid cyst

Journal of Perinatology volume 35, pages 233–234 (2015)Cite this article

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The sonographic and MRI studies demonstrated DWM, partial agenesis corpus callosum and a thoracic subarachnoid cyst.

The constellation of findings is most consistent with Ritscher–Schinzel 3-C syndrome. This syndrome is an autosomal recessive condition characterized by a triad of craniofacial, cerebellar and cardiac (hence the name 3-C syndrome) malformations.1 The cardiac malformations are variable including ventricular septal defect, atrial septal defect, TOF, double outlet right ventricle, hypoplastic left heart syndrome, aortic and pulmonary valvar stenosis.1 The cerebellar or posterior fossa malformations that are characteristic include DWM, vermian hypoplasia and enlarged cisterna magna. The important third part of the triad are the characteristic craniofacial abnormalities including cleft palate, iris and retinal colobomas, low set ears, hypertelorism, micrognathia, depressed nasal bridge, prominent forehead and occiput, large anterior fontanel, optic nerve atrophy, bifid uvula, high arched palate and down slanting palpebral fissures.2

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References

  1. 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 Genet 2001; 102: 237–242.

    Article  CAS  Google Scholar 

  2. Hatzidaki E, Mantoura A, Korakaki E, Germanakis J, Karabekios S, Giannakopoulou C . Ritscher-Schinzel or 3C syndrome with heterochromatic iris. Pediatr Int 2003; 45: 574–576.

    Article  Google Scholar 

  3. Friesen KJK, Chodirker BN, Chudley AE, Reed MH, Elliott AM . Radiographic characterization of the hands in Ritscher Schinzel/3-C syndrome. Springerplus 2013; 2: 594.

    Article  Google Scholar 

  4. Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Peterson MB . 3C syndrome with cryptorchidism and posterior embryotoxon. Clin Dysmorphol 2005; 14: 97–100.

    Article  Google Scholar 

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Authors and Affiliations

  1. St Louis Children’s Hospital Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    K M Sargar, A Radmanesh, T E Herman & M J Siegel

Authors
  1. K M Sargar
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  2. A Radmanesh
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  3. T E Herman
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  4. M J Siegel
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Corresponding author

Correspondence to T E Herman.

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Sargar, K., Radmanesh, A., Herman, T. et al. 3-C Ritscher–Schinzel syndrome with spinal subarachnoid cyst. J Perinatol 35, 233–234 (2015). https://doi.org/10.1038/jp.2014.220

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  • DOI: https://doi.org/10.1038/jp.2014.220

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