INTRODUCTION A girl presented with achondroplasia manifested as mild knee pain associated with stiffness of her back. A skeletal survey showed enchondroma-like metaphyseal dysplasia and ossification of the spinal ligaments. Magnetic resonance imaging of the spine further clarified the pathological composites. CASE PRESENTATION A 7-year-old girl presented with the classical phenotypic features...

Infantile macrocephaly has a myriad of causes including megalencephaly, intracranial mass, and CSF disturbance.1 An 8-week-old infant presented with increasing head circumference. Antenatal ultrasound was unremarkable, with biparietal diameter and head circumference on the 50th centile at 20 weeks’ gestation. At birth, head circumference was on the 90th centile; no other abnormalities were reco...

We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skelet...