{Reference Type}: Journal Article
{Title}: A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
{Author}: Konya MN;Elmas M;Erginoğlu SE;Yeşil M;
{Journal}: Int J Surg Case Rep
{Volume}: 7
{Issue}: 0
{Year}: 2015
暂无{DOI}: 10.1016/j.ijscr.2014.10.098
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.<BR><B>CONCLUSIONS: </B>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.