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Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit

Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not ma...

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Autores principales: Fagen, Kimberly E., Blask, Anna R., Rubio, Eva I., Bulas, Dorothy I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2017
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310945/
https://www.ncbi.nlm.nih.gov/pubmed/28210519
http://dx.doi.org/10.1055/s-0036-1592188
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author Fagen, Kimberly E.
Blask, Anna R.
Rubio, Eva I.
Bulas, Dorothy I.
author_facet Fagen, Kimberly E.
Blask, Anna R.
Rubio, Eva I.
Bulas, Dorothy I.
author_sort Fagen, Kimberly E.
collection PubMed
description Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.
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spelling pubmed-53109452017-02-16 Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit Fagen, Kimberly E. Blask, Anna R. Rubio, Eva I. Bulas, Dorothy I. AJP Rep Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant. Thieme Medical Publishers 2017-01 /pmc/articles/PMC5310945/ /pubmed/28210519 http://dx.doi.org/10.1055/s-0036-1592188 Text en © Thieme Medical Publishers
spellingShingle Fagen, Kimberly E.
Blask, Anna R.
Rubio, Eva I.
Bulas, Dorothy I.
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title_full Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title_fullStr Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title_full_unstemmed Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title_short Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
title_sort achondroplasia in the premature infant: an elusive diagnosis in the neonatal intensive care unit
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310945/
https://www.ncbi.nlm.nih.gov/pubmed/28210519
http://dx.doi.org/10.1055/s-0036-1592188
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