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.
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.
Authors: Alena Welters; Thomas Meissner; Katja Konrad; Clemens Freiberg; Katharina Warncke; Sylvia Judmaier; Olga Kordonouri; Michael Wurm; Matthias Papsch; Gisela Fitzke; Silke Christina Schmidt; Sascha R Tittel; Reinhard W Holl Journal: Orphanet J Rare Dis Date: 2020-04-22 Impact factor: 4.123