Introduction: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC.
Case Report: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years’ duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome.
Conclusion: The radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC.
Keywords: Genu varum, Dyggve-Melchior-Clausen syndrome, spondyloepimetaphyseal dysplasia.
Most of the options available to treat distal clavicle fractures involve hardware-related complications and high failure rates. This study aims to determine the outcome of distal clavicle fractures treated by a technique that combines biological reconstruction of the coracoclavicular ligament with semitendinosus autograft with reinforced fibrous tissue tapes. In this retrospective study, 8 patients with displaced distal third clavicle fracture cho’s IIB or II C were operated on with the described surgical technique between 2018 and 2021. The results were assessed by comparing the preoperative Constant Murley score and the postoperative DASH score. In addition to these variables, several other variables were also assessed, such as the coracoclavicular distance, the time until union, and all intraoperative and postoperative complications. The study included eight patients with an average age of 36.5 years, and the average time from surgery to recovery was five days. According to Cho’s classification, all eight patients achieved radiographic union within 89 days. Of the eight cases, six were classified as II C and two as II B. The follow-up period was an average of 13 months. During the postoperative period, the Constant Murley score score increased from 22.2 preoperatively to 92.2 postoperatively. The mean DASH score was 89.6, and the mean postoperative DASH score was 7.75. In terms of the coracoclavicular distance, the mean preoperative was 20.2 mm, and the mean postoperative was 10.3 mm. One patient experienced a minor wound complication after surgery, treated with secondary suturing after the operation. No intraoperative complications occurred. There was no donor site morbidity observed in the patients. It has been demonstrated that the use of this technique in displaced unstable distal clavicle fractures using a fiber tape and a semitendinosus autograft results in a satisfactory union and excellent clinical outcomes with very few complications.
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