club foot ( cf ) is one of the most common deformities of the foot . roughly half of the cases are bilateral and unilateral involvement is more frequent in the right foot . gastrosoleus muscle , attended by the long toe flexors tibialis anterior and tibialis posterior , is thought to have dominance in this condition . the purpose of treatment in cf is to obtain a normal anatomy as closest , to gain mobility and to have a painless foot . genetical factors , intrauterine mechanical factors , neuromuscular defects , intrauterine growth retardation , primary germ cell defects , myodisplasia , muscular imbalance , local dysplasia , eating disorders , hormonal disorders and infections have all been implicated in the etiology of cf . ritscher  schinzel syndrome , or cranio - cerebello - cardiac syndrome , is rarely diagnosed . it has autosomal recessive inheritance and it is characterized by cranio - facial , cerebellar and cardiac anomalies . walker malformation and cerebellar vermis hypoplasia , the latter leading to dilatation of the fourth ventricle and enlargement of the cisterna magna . the cranial dysmorphisms associated with 3c syndrome are heterogeneous and may include many deformities such as a large anterior fontanel , micrognathia , ocular hypertelorism , brachycephaly , low - set ears , slanted palpebral fissures , cleft palate , depressed nasal bridge and cleft palate with associated bifid uvula . , some patients died a few days after their birth whereas some being alive over the age of 40 . our patient was a 20-month old boy and the first child from his father 's second marriage . he was born as a mature baby with a weight of 2800  g in the hospital . he had bilateral talipes equinovarus deformities ( club foot ) and had serial casting for five times at different clinics with ponseti technique ( see fig . pelvic radiography demonstrated developmental dysplasia of the hip on the left side ( see fig . 3 ) , a wide open anterior fontanelle , motor and mental retardation , micrognathia , microcephaly and retrognathia ( see fig . after genetical evaluation and tests were performed the patient was diagnosed 3c ( ritscher  schinzel ) syndrome . dandy  walker syndrome ( dws ) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around . a key component of this syndrome is partial or even complete absence of some proportion of the brain which is located between the two cerebellar hemispheres ( cerebellar vermis ) . our patient had various abnormalities in his brain mri similar to those seen in dws and also additional cerebellar vermis hypoplasia ( fig . dws is a common manifestation of ; joubert syndrome , other 6p deletion syndromes and ritscher  schinzel syndrome and thus the differential diagnosis included all these syndromes . joubert syndrome ( js ) is an autosomal recessive disorder characterized by hypotonia , growth retardation , episodic hyperpnea and/or apnea , atypical eye movements and truncal ataxia . together with these clinical features of the syndrome the neuroimaging hallmarks ( mri ) of js include cerebellar vermis hypoplasia and  molar tooth  sign ( fig . hindbrain malformation characterized by thickened and elongated superior cerebellar peduncles , abnormally deep interpeduncular fossa and additional vermis hypoplasia . so , lack of  molar tooth  appearance in our patient 's mri imaging helped us to exclude joubert syndrome from differential diagnosis . patients with 3c syndrome often has 6p deletion however typical 3c syndrome phenotype was so prominent that we excluded other 6p deletion syndromes ( fig . 4 ) . ritscher  schinzel syndrome include major cardiac anomalies such as ventricular septal defect , atrial septal defect , tetralogy of fallot , double - outlet right ventricle , hypoplastic left heart , aortic stenosis , pulmonary stenosis and other valve anomalies ( see table 1 ) . however , in some cases , cardiac abnormalities not reported . our case also did not have severe cardiac abnormalities , but he had tricuspid valve insufficiency and left abberran band . schinzel syndrome is caused by a mutation on the long arm of chromosome 8 at 8q24.13 , the locus for kiaa0196 , the gene for the protein strumpellin . strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia . the mutation occurs at a splice site and causes a substantial decrease in the amount of strumpellin produced by the cell . we assume this deterioration in strumpellin might be responsible with a spectrum of musculoskeletal disorders such as cf or congenital hip dysplasia which were manifest in our patient . surgery was planned for the treatment of congenital hip dysplasia at the time of patient 's initial admission to our department . however after ritscher  schinzel syndrome was diagnosed , we considered his hip luxation as  teratologic  and according to the literature surgical treatment of teratologic hip luxation is often associated with unsatisfactory outcomes . after a comprehensive talk with the patient 's family about his disease and probable unsatisfactory outcome with surgical intervention they decided for their child not to undergo any operation for hip luxation at this time . talipes equinovarus or club foot is a common disease and can be treated successfully with ponseti method . however if a patient presents with recurrent cf , hip dislocation and atypical facial phenotype it is essential to consider a genetic disease in differential diagnosis . as mentioned above , a comprehensive review of literature demonstrated no reports about the association of persistent cf and ritscher  schinzel syndrome . so we report this case to raise some awareness that persistent cf , in some cases , could be a feature of this rare genetical disorder , ritscher  schinzel syndrome . we certify that there is no conflict of interest with any financial organization regarding the material discussed in the manuscript . this research received no grant from any funding agency in the public , commercial or not - for - profit sectors . written informed consent was obtained from the patient for publication of this case report and accompanying images . a copy of the written consent is available for review by the editor - in - chief of this journal on request . sadk emre erginolu and murat yeil : study concept , design , data collection , writing the paper .
highlightstalipes equinovarus can concurrently be seen with several diseases but it can rarely manifest as a component of any syndrome.ritscherschinzel 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 .