Aetiological Diagnosis of children with False Diagnosis of Arthrogryposis Multiplex Congenita

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Published Feb 27, 2024
DOI: https://doi.org/10.18103/mra.v12i2.5033

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Main Article Content

Ali Al Kaissi
National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, Kurgan, Russia
Sergey Ryabykh
Pirogov Russian National Research Medical University- Veltischev Clinical Institute, Moscow, Russia
Hamza Al Kaissi
IhreHaut Dermatology Center, Kaufbeuren, Bavaria - Germany
Vasileios Dougales
Department of orthopedic surgery and traumatology, Kantonsspital Aarau, Switzerland
Vladimir Kenis
Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Parkovaya str., 64-68, Pushkin, Saint Petersburg, Russia
Susanne Gerit Kircher
Department of Medical Patho- Chemistry and genetics, Medical University of Vienna, Austria
Franz Grill
Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria

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.

Keywords: Congenital multiple contractures, Arthrogryposis Multiplex congenita, Clinical phenotype, Radiological phenotype, Genotype

Article Details

How to Cite
KAISSI, Ali Al et al. Aetiological Diagnosis of children with False Diagnosis of Arthrogryposis Multiplex Congenita. Medical Research Archives, [S.l.], v. 12, n. 2, feb. 2024. ISSN 2375-1924. Available at: <https://esmed.org/MRA/mra/article/view/5033>. Date accessed: 22 dec. 2024. doi: https://doi.org/10.18103/mra.v12i2.5033.
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Issue
Vol 12 No 2 (2024): February issue, Vol.12, Issue 2
Section
Research Articles

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