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.