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. 2015:7C:130-3.
doi: 10.1016/j.ijscr.2014.10.098. Epub 2014 Nov 6.

A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus

Mehmet Nuri Konya  1 , Muhsin Elmas  2 , Sadık Emre Erginoğlu  3 , Murat Yeşil  4
Affiliations

A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus

Mehmet Nuri Konya et al. Int J Surg Case Rep. 2015.

Abstract

Introduction: Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher-Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher-Schinzel syndrome concurrent with persistent CF.

Presentation of case: A two-year-old boy with persistent CF and concurrent congenital hip dysplasia. Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient. After a detailed phenotypic evaluation, genetical tests and imaging technique the patient was diagnosed 3C Ritscher-Schinzel syndrome.

Discussion: A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot in Ritscher-Schinzel syndrome. We report that CF may be associated with rare genetical abnormalities.

Conclusion: With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher-Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF.

Keywords: 3C; Club foot; Disorder; Genetical; Ritscher–Schinzel syndrome; Talipes equinovarus.

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Figures

Fig. 1
Fig. 1
Talipes equinovarus deformity (club foot) after casting.
Fig. 2
Fig. 2
Unilateral developmental hip dysplasia.
Fig. 3
Fig. 3
Brain MRI image of our patient.
Fig. 4
Fig. 4
Typical face appearance for 3C, Ritscher–Schinzel syndrome (anterior and lateral view).
Fig. 5
Fig. 5
“Molar tooth” sign. Arrows show thickened and elongated superior cerebellar peduncles, and abnormally deep interpeduncular fossa.
See this image and copyright information in PMC

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