Achondroplasia Presenting with Pneumonia in a Two Months Old Boy

Abstract

Achondroplasia is one of the common chondrodysplasias with an inheritance is autosomal dominant, but in around 85% the phenotype is the result of a new mutation. Achondroplasia develops as a result of dysplasia of enchondral formation due to the mutation of fibroblast growth factor receptor 3. A 2-month-old boy was referred to the our hospital with cough and fever. Craniofacially the head appeared large and also frontal bossing and depressed nasal bridge was demonstrated. Narrow lumbar interpedicular distances, normal trunk length, short-wide pelvis, micromelic upper extremities and rhizomelic lower extremities were seen on x-ray examination. The clinically and radiographically diagnosis of achondroplasia with heart failure secondary to pneumonia was performed. Achondroplasia, presenting with respiratory disorders and short limb should be differentiated from metatropic dysplasia and campomelic dysplasia. Achondroplasia may had similar findings with other dwarfism and differentiate diagnosis from other achondroplasia like diseases needs team work which includes pediatry, radiology and medical genetic for better patient care and family counseling.