Abstract
serum ALP was extremely low (20 U/L, normal range of 70 U/L). Further diagnostic testing was performed which determined that the infant had a heterozygous 1559delT mutation. Based on these findings, we suggest that ALP assay of a chorionic villi sample is strongly recommended in order to obtain more confident diagnosis of this lethal skeletal dysplasia when poorly ossified facial bone detected during the first trimester ultrasound examination.
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