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Year : 2019  |  Volume : 16  |  Issue : 1  |  Page : 23-28

A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation

1 Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria
2 Paediatric Orthopaedic Surgery, Children Hospital, Tunis, Russia
3 Pediatric Orthopedic Institute N.A.H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Parkovaya Str., Pushkin, Saint-Petersburg, Russia
4 Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria
5 Institute of Medical Chemistry, Medical University of Vienna, Austria

Correspondence Address:
Dr. Ali Al Kaissi
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA, Hanusch Hospital and Orthopedic Hospital of Speising–Pediatric Department Vienna
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajps.AJPS_90_17

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Background: Trendelenburg's gait can be observed in Legg-Calvé-Perthes disease, antalgic gait observed in osteoarthropathy and waddling gait is usually seen in genu varum and circumduction gait in patients with genu valgum. Disabling pain was a prime manifestation in slipped capital femoral epiphysis (SCFE). Limited joint range of motion with an inability to bear full weight on an affected extremity with swaying and wide-based gait is seen in patients with malalignment of the lower limbs. All the above-mentioned deformities have been labelled as idiopathic. The main objective of this article is to approach to the aetiology understanding. Patients and Methods: Ten children (3 girls and 7 boys with age average of 9 years) presented with variable deformities; Perthes-like deformity, genu varum/valgum and osteoarthropathy and one patient with SCFE. Clinical and radiological phenotypes were the baseline tool of diagnosis. Genotypic characterisations were performed. Results: Diverse clinical presentations of Perthes-like disease, osteoarthropathy, genu varum/valgum and SCFE were the most prominent skeletal abnormalities in patients manifested cartilage oligomeric matrix protein (COMP) gene mutation. Conclusion: The value of presenting this article is fourfold; first to signify that mutation study was essential for the increment of knowledge related to the genotype–phenotype relationships. Second, to indicate that professional awareness is needed to differentiate between the hidden pathologies in patients with Perthes-like deformity, genu varum, genu valgum and early osteoarthritis in correlation with COMP gene mutation. Third, it is mandatory to question the validity of the term idiopathic. Fourth, this article is an attempt to sensitise orthopaedic physicians and surgeons that deformities might be stemmed from diverse forms of intrinsic bone disorders.

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