Aetiological Diagnosis of children with False Diagnosis of Arthrogryposis Multiplex Congenita

Abstract

Background: Arthrogryposis multiplex congenita is the usual misdiagnosis given for children born with multiple joint dislocation syndromes. The purpose of the study was to refute the term arthrogryposis multiplex congenita as well as contractures and replace them with a precise diagnostic entity. Methods: Eight unrelated children referred to our orthopaedic departments with the presumptive misdiagnosis of arthrogryposis multiplex because of multiple joint contractures. Five boys and three girls (aged 1 month-5 year) and one adult-15-year-old-boy have been included. We performed extensive clinical and radiographic phenotypic characterization of every single patient associated with confirmatory genotype. Results: We accomplished the diagnoses in all these children. Three diagnostic entities emerged. Larsen syndrome, diastrophic dysplasia and Escobar syndrome. The genotype has been performed accordingly. Conclusion: The reason for presenting this study is threefold; Firstly, to illustrate the necessity of the etiological diagnosis in children with the misdiagnosis of arthrogryposis multiplex congenita in connection with the presumptive misdiagnosis of fetal akinesia, Pena-Shokeir syndrome or congenital myopathy. Secondly, full consideration of the phenotypic characterization and the additional pathological features allowed us to achieve proper management. Thirdly, is to clarify that excessive vigorous attempts to correct the dislocations in children with skeletal dysplasia were felt to not be recommended because of the risk of damaging the dysplastic epiphyses.