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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Al Kaissi, A; Ganger, R; Roetzer, KM; Schwarzbraun, T; Klaushofer, K; Grill, F.
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.
Orthop Surg. 2013; 5(1): 33-39.
Doi: 10.1111/os.12023
(- Case Report)
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- Co-authors Med Uni Graz
- Schwarzbraun Thomas
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- Abstract:
- Objective: Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as osteochondrodysplasias. These genetic disorders arise through disturbances in the complex processes of skeletal growth causing development of unsightly skeletal deformities. Methods: Each syndrome was diagnosed on the basis of detailed clinical and radiographic assessment. Lower limb deformities were the prime presenting feature. Results: Here are presented three patients with diverse genetic syndromes, namely Wolcott-Rallison syndrome (WRS), Kniest dysplasia (KD) and Desbuquois dysplasia (DS). Genetic testing was performed in the patients with WRS and DS. The diagnosis of KD was made purely on a clinical and radiographic basis. Variable orthopaedic interventions to realign these patients' lower limbs were implemented with the aim of improving their balance and gait. Conclusions: The aim of this paper is twofold. The first part is to outline the importance of diagnosing the causes of various skeletal abnormalities in patients with osteochondrodysplasias by phenotypic and genotypic characterization. The second part is to demonstrate our techniques for surgical corrections in patients with joint laxity and malalignment and show how far techniques for growth modulation, re-alignment and ligament reconstruction have advanced.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Child, Preschool -
- Cleft Palate - complications Cleft Palate - genetics Cleft Palate - surgery
- Collagen Diseases -
- Craniofacial Abnormalities - complications Craniofacial Abnormalities - genetics Craniofacial Abnormalities - surgery
- Diabetes Mellitus, Type 1 - complications Diabetes Mellitus, Type 1 - genetics Diabetes Mellitus, Type 1 - surgery
- Dwarfism - complications Dwarfism - genetics Dwarfism - surgery
- Epiphyses - abnormalities Epiphyses - surgery
- Face - abnormalities Face - surgery
- Genu Valgum - etiology Genu Valgum - surgery
- Humans -
- Hyaline Membrane Disease - complications Hyaline Membrane Disease - genetics Hyaline Membrane Disease - surgery
- Joint Instability - complications Joint Instability - genetics Joint Instability - surgery
- Lower Extremity - surgery
- Male -
- Orthopedic Procedures - methods
- Ossification, Heterotopic - complications Ossification, Heterotopic - genetics Ossification, Heterotopic - surgery
- Osteochondrodysplasias - complications Osteochondrodysplasias - genetics Osteochondrodysplasias - surgery
- Polydactyly - complications Polydactyly - genetics Polydactyly - surgery
- Treatment Outcome -
- Find related publications in this database (Keywords)
- Phenotypic/genotypic correlation
- Re-alignment procedures
- Skeletal dysplasia