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  • Imaging Casebook
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Imaging Case Book

Ritscher–Schinzel cranio-cerebello-cardiac syndrome

Journal of Perinatology volume 28, pages 715–718 (2008)Cite this article

Dandy Walker malformation without hydrocephalus, a normal position of the conus with a ventriculus terminalis and a single pelvic pancake kidney were present. The presence of Dandy Walker malformation, complex heart disease and prominent forehead, hypertelorism, low set ears and depressed nasal bridge in a child with normal chromosomes allow a diagnosis of the autosomal recessive Ritscher–Schinzel cranio-cerebello-cardiac (3-C) syndrome.1 The infant was treated with repair of the total anomalous veins, and interrupted aortic arch. However, during the post-operative period the infant required prolonged resuscitation and was placed on extracorporeal membrane oxygenation. Because of worsening cardiac function, on the ninth day of life, the decision was made to discontinue extracorporeal membrane oxygenation. The infant died the same day.

Ritscher and Schinzel described the first two patients with 3-C syndrome in 1987.2 They reported two sisters with Dandy Walker malformation and atrioventricular canal defects. Currently the diagnostic criteria used to diagnose this condition in a patient with normal chromosomes are as follows: 1) congenital heart disease more complicated than simple patent ductus arteriosus, 2) Dandy Walker malformation or vermian hypoplasia and 3) craniofacial malformations: either cleft palate and ocular colobomas or four of the following: prominent occiput, prominent forehead, hypertelorism, micrognathia, depressed nasal bridge, down slating palpebral fissures, low set ears and depressed nasal bridge.1 As in our patient, the severity of the congenital heart disease determines the prognosis of patients with 3-C syndrome.

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

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Ritscher–Schinzel cranio-cerebello-cardiac syndrome. J Perinatol 28, 715–718 (2008). https://doi.org/10.1038/jp.2008.80

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