A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus
| Autor: | Murat Yeşil, Muhsin Elmas, Sadık Emre Erginoğlu, Mehmet Nuri Konya |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pediatrics
medicine.medical_specialty Autosomal recessive inheritance business.industry Genetical Forefoot Internal rotation fungi Ritscher–Schinzel syndrome Talipes equinovarus Disease medicine.disease Club foot Article body regions Rare case Disorder Medicine Surgery business 3C Congenital disorder |
| Zdroj: | International Journal of Surgery Case Reports |
| ISSN: | 2210-2612 |
| Popis: | Highlights • Talipes equinovarus can concurrently be seen with several diseases but it can rarely manifest as a component of any syndrome. • Ritscher–Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. • A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot with this Ritscher–Schinzel syndrome. • So we report this case to raise some awareness that persistent PEV, in some cases, could be a feature of this rare genetical disorder, Ritscher–Schinzel syndrome. 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. |
| Databáze: | OpenAIRE |
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