"the calvarium will be ossified in achondrogenesis as opposed to hypophosphatasia where it will be absent."
"in contrast to the thickened bones of osteogenesis type II, the long bones in hypophosphatasia tend to be thin or may be absent."
"As with all hypophosphatasia cases, this is due to a mutation in chromosome 1q36 for the tissue non-specific alkaline phosphatase (TNSALP) gene. It has an autosomal recessive inheritance."
Expected headings
"Complications"
"unusually dense, round, flattened, butterfly-shaped; and sagittally clefted vertebral bodies"
"Previously this subtype was thought lethal in all cases. However, since 2015 treatment has been available in the form of Asfotase alpha enzyme replacement therapy 8. This has been shown to induce bone mineralisation as well as improve related cognitive, respiratory and motor outcomes."