Anthropometric characteristics of four Polish children with mucopolysaccharidosis

BMC Research Notes

Lidia Perenc¹ 

[1] Institute of Physiotherapy, University of Rzeszów, Warszawska 26A, Rzeszów 35-205, Poland

关键词: Case Report;    Physical Growth;    Anthropometric Measures;    Mucopolysaccharidosis;   

Others  :  1142376
DOI  :  10.1186/1756-0500-6-246

 received in 2012-12-20, accepted in 2013-06-26,  发布年份 2013

【 摘 要 】

Background

Mucopolysaccharidosis relates to a group of seven prevalent types of disorders that are categorized on the basis of specific enzyme deficiency or the major symptoms, or both. A typical clinical presentation includes such symptoms and characteristics as short stature, facial dysmorphism, skeletal deformities, pulmonary dysfunction, joint stiffness and contractures, myocardial hypertrophy, neurological symptoms, and mental retardation.

Case presentation

The purpose of this study was to perform a detailed anthropometric assessment in four cases of children with mucopolysaccharidosis (MPS) I and II types aged from 4 to 13 years from the Podkarpacie Province (south-eastern Poland). Anthropometric assessment included several parameters and indices related to body structure. All examined patients are characterized by severely disordered physical growth in comparison with the Polish norms presented in the reference charts.

Conclusions

Examined children with MPS are characterized by especially low values relating to longitudinal and transversal parameters of body build. Anthropometric data could be used in early diagnosis of MPS and assessment of results of its treatment.

【 授权许可】

   
2013 Perenc; licensee BioMed Central Ltd.

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