Search

Introduction: Achondroplasia (ACH) is a dominant autosomal genetic disorder. The patients present with disproportionate short stature with short limbs and normal size torso due to abnormal bone growth. Growth charts are important tools that reflect patients' growth status and help in monitoring effectiveness of the treatment. Aim: To construct new reference growth charts for height, weight and head circumference for Egyptian patients with ACH. Materials and Methods: This cross-sectional study included 327 patients (186 males and 141 females) aged one to eight years. Patients were divided into seven groups of male and female patients. Patients were compared with controls matching age and sex. All measurements were taken using standardised equipment and as per the international recommendations. Values were statistically analysed using independent Student's t-test and growth curves were plotted for mean±SD values. Results: Height measurements were lower than those of the controls in both sexes and at all age groups. As compared to the established control data, weight measurements were below average in males. However, in females, the measurements overlapped with the controls until the age of six years and afterwards progressive failure to gain weight was observed. Relative macrocephaly in both male and female patients at all age groups compared to the matched controls was observed. Conclusion: Authors recommend that the use of new growth charts specific for patients with ACH for optimal patients care and early detection of concomitant factors affecting growth. [ABSTRACT FROM AUTHOR]