Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran.Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients.Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages.Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.
Background Total hip arthroplasty (THA) is increasingly common in younger patients, who are more likely to be working preoperatively. There is a need for an updated review of the literature regarding the rate and time to return to work (RTW), which is important when counseling patients, and also from an economic standpoint. Methods A systematic review and meta-analysis of the literature was performed on January 20, 2022, and studies reporting the rate and/or time to RTW after THA were included. Two authors independently selected relevant papers. RTW was extracted and analyzed using fixed-effects or random-effects models where appropriate. Results A total of 48 studies were included in the final analysis. We found that 70.7% of patients were working after primary THA. Among patients who were working before surgery, this rate increases to 87.9%, while 28.1% of patients who were not working preoperatively started working after surgery. Younger patients were more likely to RTW, while patients with a physically demanding job were less likely to RTW. Minimally invasive techniques were reported to yield a higher rate of RTW and an earlier time to RTW. Conclusion We found that the majority of patients return to work after THA, and some patients are able to start working after surgery. Compared to previous reviews, patients seem to have a higher rate and earlier RTW. The overall trend of the literature suggests that patients are returning to work earlier and at a higher rate compared to previous reviews.
Omodysplasia is an extremely rare skeletal dysplasia. Since introducing this phenotype as a new syndrome, ten cases of the autosomal dominant type of this disease have been reported. Here, we present a new patient and review published articles in this field to provide a clinical diagnostic criterion.
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