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  1. Faouzi I Maalouf,
  2. Sarah A Coggins,
  3. John A Phillips III,
  4. Beatrice M Stefanescu,
  5. Jörn-Hendrik Weitkamp
  1. Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA
  1. Correspondence to Dr Jörn-Hendrik Weitkamp, Department of Pediatrics, Division of Neonatology, Vanderbilt University & Monroe Carell Jr. Children's Hospital at Vanderbilt, 2215 B Garland Ave, 1125 MRB IV/Light Hall, Nashville, TN 37232-0656, USA; hendrik.weitkamp{at}vanderbilt.edu

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Question 1: The correct answer is E

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 …

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