You are here

Article Text

Article menu
Download PDFPDF
Epilogue
Answers to Epilogue questions
  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

https://doi.org/10.1136/archdischild-2015-308719a

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Answers

    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 …

    View Full Text

    Footnotes

    • 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.