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American Academy of Pediatrics
Article

Revisiting Skeletal Dysplasias in the Newborn

Seth J. Langston, Deborah Krakow and Alison Chu
NeoReviews April 2021, 22 (4) e216-e229; DOI: https://doi.org/10.1542/neo.22-4-e216
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Seth J. Langston
*Division of Neonatology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA
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Deborah Krakow
†Department of Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, CA
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Alison Chu
‡Division of Neonatology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA
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  • Abbreviations:
    CNP:
    C-type natriuretic peptide
    FGF:
    fibroblast growth factor
    FGFR3:
    fibroblast growth factor receptor 3
    FL/AC:
    femur length to abdominal circumference
    MRI:
    magnetic resonance imaging
    OI:
    osteogenesis imperfecta
    SD:
    standard deviation
    TD:
    thanatophoric dysplasia
    U/L:
    upper segment to lower segment
    WES:
    whole exome sequencing
  • Abstract

    With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual’s life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Although some disorders are lethal in the perinatal and neonatal periods, other disorders allow survival into infancy, childhood, and even adulthood with relatively normal lives. The foundation of management for an affected individual is multidisciplinary care. Medical advances have offered new insights into reducing common morbidities through pharmacologic means. This review summarizes the normal skeletal development and discusses the 3 most common skeletal dysplasias that can affect the newborn.

    • Copyright © 2021 by the American Academy of Pediatrics

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    NeoReviews
    Vol. 22, Issue 4
    1 Apr 2021
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    Revisiting Skeletal Dysplasias in the Newborn
    Seth J. Langston, Deborah Krakow, Alison Chu
    NeoReviews Apr 2021, 22 (4) e216-e229; DOI: 10.1542/neo.22-4-e216

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    Revisiting Skeletal Dysplasias in the Newborn
    Seth J. Langston, Deborah Krakow, Alison Chu
    NeoReviews Apr 2021, 22 (4) e216-e229; DOI: 10.1542/neo.22-4-e216
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    • Article
      • Abstract
      • Education Gap
      • Objectives
      • Introduction
      • Embryology/Development
      • Epidemiology
      • Diagnosis
      • Clinical Aspects
      • Osteogenesis Imperfecta
      • Achondroplasia
      • Thanatophoric Dysplasia
      • Other Skeletal Dysplasias
      • Long-Term Outcomes and Summary
      • Footnotes
      • References
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