TY - JOUR T1 - Answers to Epilogue questions JF - Archives of disease in childhood - Education & practice edition JO - Arch Dis Child Educ Pract Ed SP - 168 LP - 168 DO - 10.1136/archdischild-2015-308719a VL - 101 IS - 3 AU - Faouzi I Maalouf AU - Sarah A Coggins AU - John A Phillips III AU - Beatrice M Stefanescu AU - Jörn-Hendrik Weitkamp Y1 - 2016/06/01 UR - http://ep.bmj.com/content/101/3/168.abstract N2 - Question 1: The correct answer is EThe 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 … ER -