A case of Ritscher-Schinzel syndrome or 3C syndrome

descriptionPublicationkeyboard_double_arrow_right Article 25 Apr 2017Publisher:Medip AcademyJournal:International Journal of Contemporary Pediatrics, volume 4, page 1,122 (issn: 2349-3283, eissn: 2349-3291,

Authors: G. Deepika; Chaitali R Raghoji; R. C. Ashwini; G. Guruprasad;

doi: 10.18203/2349-3291.ijcp20171742

A case of Ritscher-Schinzel syndrome or 3C syndrome

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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.

8 Research products, page 1 of 1

Ritscher - Schinzel Syndrome - 3C (Cranio-Cerebello-Cardiac) Syndrome: Case Report
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Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review
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Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations
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Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher?Schinzel (3C) syndrome
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Cranio‐cerebello‐cardiac (3C) syndrome: Follow‐up study of the original patient
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3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome)
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[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
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A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.
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