Main clinical features
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severe short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability with or without craniosynostosis, facial dysmorphism, scoliosis, intellectual disability, brain asymmetry, and short fourth metatarsals, increasing limited extension of the elbow, distal hyperextensibility, overriding toes, and short trunk with hyperlordosis
MRI of the brain at 5 years of age showed asymmetric prominent lateral ventricles with squaring off of the frontal horns and mild thinning of the anterior body of the corpus callosum
Skeletal survey at 5 years of age showed significant delay in epiphyseal maturation, coxa vara and small flat femoral epiphysis, generalized osteopenia, copper-beaten appearance of the skull with premature closure of sutures, short metacarpal bones, delayed bone age, platyspondyly |