Ellis-van Creveld syndrome in a neonate: a case report.

Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in two genes, EVC1 and EVC2 in the 4p16 chromosome. The exact prevalence of EVC is unknown and is estimated at approximately seven per million. It affects males and females equally. It is a constellation of four findings, including chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. Our case was unique as it had left inguinal hernia, short phallus, hyperpigmented scrotum, cryptorchidism, and other defining features of this syndrome. A multidisciplinary team managed this patient with regular follow up. Only six cases have been reported in Pakistan, and only one of them was reported in a neonate. This report highlights the importance of timely and proper multidisciplinary management of such disorders for better outcomes. It will also create awareness among medical professionals and will help them to identify promptly.

Surgical Site Infection After Stoma Reversal: A Comparison Between Linear and Purse-String Closure.

INTRODUCTION: Intestinal stomas are utilized for both benign and malignant conditions of the intestine to mitigate the risk of anastomotic leakage and re-exploration. However, stomas are associated with various complications, such as stoma necrosis, peri-stomal irritation, parastomal hernia, bleeding, bowel obstruction, and electrolyte abnormalities. Surgical site infection (SSI) is a significant source of morbidity following stoma reversal, leading to increased patient morbidity. The conventional method of stoma reversal involves closing the skin with non-absorbable sutures in a linear fashion, which is known as linear skin closure (LSC). Recently, a new method of skin closure using purse-string approximation (PSA) has been advocated, which allows healing by secondary intention. The rationale for this study is to compare the SSI associated with LSC and PSA after stoma reversal. OBJECTIVE: This study aims to compare the frequency of SSI between LSC and PSA in stoma reversal. MATERIALS AND METHODS: The study was conducted at the Department of General Surgery, Shifa International Hospitals Ltd. (SIH), Islamabad, Pakistan. The study is a randomized controlled clinical trial carried out between the 14th of March 2021 and the 22nd of November 2022. The sampling technique was non-probability consecutive random sampling. The sample size was calculated using the WHO sample size calculator by using the hypothesis test for two population proportions. The minimum sample size in each group was 40 patients. The total sample size was 80 patients. RESULTS: The overall frequency of SSI in all the patients was 18/80 (22.5%). The frequency of SSI in Group 1 (LSC) was 6/40 (15.0%), and in Group 2 (PSA), it was 12/40 (30.0%). The frequency of SSI in Group 2 (PSA) was twice as high as in Group 1 (LSC); however, the p-value was calculated to be 0.108. Therefore, this difference was statistically insignificant. CONCLUSIONS: While PSA has exhibited promise in reducing SSI rates and enhancing aesthetic outcomes and patient satisfaction, there is still enough data favoring LSC. Moreover, insufficient data is available for our population to make a definitive statement. Consequently, further research on this topic is warranted, preferably involving larger sample sizes and multicenter randomized controlled trials, to establish which technique is superior in SSI reduction.