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Orphanet Journal of Rare Diseases Aug 2012Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically... (Review)
Review
Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and osteopoikilosis, accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by "Nosology and Classification of genetic skeletal disorders" have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.
Topics: Bone Diseases; China; Genetic Diseases, Inborn; Humans; Publishing
PubMed: 22913777
DOI: 10.1186/1750-1172-7-55 -
Journal of Children's Orthopaedics Mar 2012Thoracolumbar kyphosis (TLK) is described as a common presentation in children with achondroplasia. However, the prevalence and development of TLK are ill-defined, as...
PURPOSE
Thoracolumbar kyphosis (TLK) is described as a common presentation in children with achondroplasia. However, the prevalence and development of TLK are ill-defined, as well as its clinical implications. The goal of this study was to assess the existing evidence on the prevalence and development of TLK from the literature.
METHODS
A systematic literature review was performed in PubMed, EMBASE, and Thomson Reuters (ISI) Web of Knowledge. Articles were selected and evaluated with the Newcastle-Ottawa Scale in duplicate. Articles were included when the included patients were diagnosed with achondroplasia and the prevalence of TLK in this population was reported.
RESULTS
Seven studies were included. The prevalence of TLK varied between 50 and 100%, but the populations differed significantly. Also, the measurement method and definition of TLK was not given in any of the included studies. Two studies reported TLK in different age categories, but the development of TLK through age could not be inferred. Overall, the methodological quality was low.
CONCLUSIONS
The prevalence rates of TLK in achondroplasia could not be assessed from the literature because the populations differed and the definition of TLK in the studies was not described. In future studies, this definition needs to be given and patients need to be assessed over a longer period of time, with repeated assessments.
PubMed: 22442656
DOI: 10.1007/s11832-011-0378-7