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The clinical signs and radiographic findings were consistent with a lethal phenotype of perinatal hypophosphatasia. Hypophosphatasia is a rare (estimated incidence of 1/100 000 to 1/300 000 live births) autosomal recessive or dominant condition caused by loss-of-function mutation(s) in the ALPL gene encoding the tissue non-specific form of alkaline phosphatase (ALP). ALPL is the only gene known to be associated with hypophosphatasia and its mutation can lead to a pathognomonic dyad of low serum levels of ALP activity and deficient bone mineralisation.1 …
Contributors FIM, SAC and J-HW wrote the manuscript. JAP and BS edited the manuscript and provided critical information to the case. J-HW edited and submitted the manuscript.
Competing interests None declared.
Patient consent Obtained.
Ethics approval Vanderbilt University IRB.
Provenance and peer review Not commissioned; externally peer reviewed.
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