The Orthopaedic Management of Hip Dysplasia with Underlying Megalencephaly-Capillary Malformation Syndrome: a Case Report

Abstract

Megalencephaly-capillary malformation (MCAP) syndrome is a rare genetic syndrome that presents at birth with varying degrees of abnormalities. It is characterized by a wide spectrum of anomalies, including primary (congenital or early postnatal) megalencephaly, prenatal overgrowth, and connective tissue dysplasia involving the skin, subcutaneous tissue, and joints. Varying degrees of connective tissue dysplasia may lead to joint hypermobility, which can cause congenital dislocation of the joints, including the hips and knees. There are currently no published reports of hip dysplasia with underlying MCAP syndrome.We present a male patient diagnosed with MCAP at 18 months through genetic testing. He had a dislocatable left hip at birth which had failed brace treatment and one attempt at closed reduction, then subsequent adductor tenotomy and repeat closed reduction. He has since been treated with a rigid brace multiple times for prolonged periods due to residual acetabular dysplasia of the left hip. The patient continues to be followed by an orthopaedic surgeon and may require a pelvic osteotomy in the future. There are ongoing concerns for post-operative complications due to vascular malformations.Further prospective data must be collected from cases of hip dysplasia comorbid with MCAP syndrome to determine if features of the syndrome interfere with management and treatment of hip dysplasia.