Case History/ Examination
A 9 years 10 months old male patient coming from northern Peru, born to a primigravida, with no relevant perinatal history, who exhibited normal psychomotor development up to 6 months of age. After that time, he developed evidence of discrete palpable and painless lumbar spine deformation together with increased head circumference, stunting and progressive joint stiffness affecting his ability to walk and grasp objects (1 year and 6 months of age) (Figure 1). Moreover, changes in features began to develop, with coarse facies, prominent forehead, thick hair, hirsutism, thick eyebrows, bulging eyes, broad nasal base, depressed nasal bridge, macroglossia, and small, spaced-out teeth. Persistent and worsening lumbar deformity added to joint stiffness prompted referral to a center specialized in physical medicine and rehabilitation where the patient was diagnosed with L2-L3 hemivertebrae and subjected to surgery for bilateral hip dysplasia.