A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia

Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki City, Japan.
Pediatrics International (Impact Factor: 0.73). 11/2000; 42(5):564-7. DOI: 10.1046/j.1442-200x.2000.01263.x
Source: PubMed
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    ABSTRACT: 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 observed with age. The main criteria of division of achondroplasia are x-ray and genetic research. Elaboration of percentile graph of growth prediction for children with achondroplasia. In the research, 134 children at the age from 0 to 18 years and also adults with achondroplasia (under IP-CZD control) were included. The group contained 75 men and 59 women. Because of a small number of patients, the individual observations have been taken as a cross-sectional data. Anthropometric measurements have been taken by skilled staff in Anthropology Lab in Dept. Paediatrics of The Children's Memorial Health Institute according to Poznań norms applying to a reference system for children and young people. The following percentiles: minimum, maximum, median and quartiles (25% and 75%) were calculated in age groups for normalized stature. Further the use of inverted transformation enables the calculation of prediction graphs. The verification of the method was confirmed by the observation that the stature of 9 children with achondroplasia (5 boys and 4 girls) have been correctly placed on the graphs.
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