Elżbieta Arasimowicz

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INTRODUCTIONS Achondroplasia is a disease with long bone growth impairment. This disturbance is present in growth plates at correct ossifying bones. Achondroplasia is inherited as an autosomal dominant pattern. However, most cases are the result of new mutations. Achondroplasia is a distinctive condition that is usually noted at birth, but worsening is(More)
An anthropometric study was undertaken to assess head proportions of patients with X-linked hypophosphatemia (XLH). Fourteen morphometric parameters of the head were measured and 10 cephalic indices calculated in 82 affected persons (57 females and 25 males) from 55 unrelated families with XLH, and compared with the results obtained in the group of their(More)
Clinical and molecular data of 59 affected persons from 36 unrelated families with XLH (36 probands and 23 members of their families) were analysed. Characteristic phenotypic features (degree of leg deformities, growth failure, tooth abnormalities, tubular reabsorption of phosphate, serum phosphate and 1,25-dihydroxyvitamin D3 concentrations, head length(More)
INTRODUCTION The ataxia-telangiectasia syndrome (AT, Louis-Bar syndrome) is one of the primary immunodeficiency disorders with genetically determined spontaneous chromosome instability. AT coexist with progressive cerebellar ataxia, sinopulmonary infections, skin disorders, including telangiectasia, radiosensitivity and tendency to recurrent respiratory(More)
Clinical course of the idiopathic juvenile osteoporosis (IJO) was monitored in the group of 45 patients of both sexes with diagnosed disease, verified during follow-up period. The aim of the study was to evaluate the relationship between clinical symptoms and the results of biochemical, anthropometric, and densitometric measurements. An analysis of the(More)
INTRODUCTION Short bowel syndrome (SBS) results from partial surgical resection of small bowel and requires parenteral nutrition. Aim of the study was to assess physical development and nutrition status of children with SBS. MATERIAL AND METHODS The study sample included 176 patients (56 girls and 120 boys) aged from 3 to 10 years. All measured(More)
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