Evidence based treatment for developmental dysplasia of the hip in children under 6 months of age. Systematic review and exploratory analysis.

INTRODUCTION: Developmental dysplasia of the hip (DDH) is a common paediatric orthopaedic condition that attracts a substantive amount of controversy. The treatments vary because of the wide spectrum of the condition and the age of children at presentation. Although conservative and surgical treatments exist; it is widely accepted that conservative treatment is the first line of treatment in the first 6 months of life. Several devices have been proposed as the treatment of choice; however, to the best of our knowledge these have not been critically appraised. Therefore, we conducted this review. METHODS: A modified Cochrane method was followed with a preplanned detailed research protocol that was developed to guide all aspects of the review. Treatment failure of the devices was chosen as the primary outcome. Secondary outcomes included femoral nerve palsy (FNP), avascular necrosis of the femoral head (AVN), residual dysplasia, skin problems, failure of subsequent surgical treatment, compliance and tolerance issues. Results are reported according to the PRISMA guidelines. RESULTS: A total of 30 studies were included in the review comparing 5 devices (The Pavlik harness, the Von Rosen splint, the Tubingen brace, the Frejka pillow, and the Aberdeen splint). The devices were compared in terms of success rate, AVN rate and residual dysplasia. The von Rosen splint has been shown to be superior to other devices in term of success rates and residual dysplasia (Χ2: P < 0.05). CONCLUSION: The review findings should be interpreted with caution as there are substantive flaws in the literature and a randomized control trail is warranted to confirm the best device to treat DDH. This is feasible given the magnitude of the problem, the clear diagnostic criteria and the treatment options.

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.

BACKGROUND: A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA. CASE PRESENTATION: An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister. CONCLUSIONS: Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases.