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Pediatric Radiology

, Volume 46, Issue 4, pp 513–518 | Cite as

Criteria for radiologic diagnosis of hypochondroplasia in neonates

  • Tomoko Saito
  • Keisuke NagasakiEmail author
  • Gen Nishimura
  • Masaki Wada
  • Hiromi Nyuzuki
  • Masaki Takagi
  • Tomonobu Hasegawa
  • Naoko Amano
  • Jun Murotsuki
  • Hideaki Sawai
  • Takahiro Yamada
  • Shuhei Sato
  • Akihiko Saitoh
Original Article

Abstract

Background

A radiologic diagnosis of hypochondroplasia is hampered by the absence of age-dependent radiologic criteria, particularly in the neonatal period.

Objective

To establish radiologic criteria and scoring system for identifying neonates with fibroblast growth factor receptor 3 (FGFR3)-associated hypochondroplasia.

Materials and methods

This retrospective study included 7 hypochondroplastic neonates and 30 controls. All subjects underwent radiologic examination within 28 days after birth. We evaluated parameters reflecting the presence of (1) short ilia, (2) squared ilia, (3) short greater sciatic notch, (4) horizontal acetabula, (5) short femora, (6) broad femora, (7) metaphyseal flaring, (8) lumbosacral interpedicular distance narrowing and (9) ovoid radiolucency of the proximal femora.

Results

Only parameters 1, 3, 4, 5 and 6 were statistically different between the two groups. Parameters 3, 5 and 6 did not overlap between the groups, while parameters 1 and 4 did. Based on these results, we propose a scoring system for hypochondroplasia. Two major criteria (parameters 3 and 6) were assigned scores of 2, whereas 4 minor criteria (parameters 1, 4, 5 and 9) were assigned scores of 1. All neonates with hypochondroplasia in our material scored ≥6.

Conclusion

Our set of diagnostic radiologic criteria might be useful for early identification of hypochondroplastic neonates.

Keywords

Achondroplasia FGFR3 Hypochondroplasia Neonate Radiography Radiologic diagnosis Scoring system 

Notes

Acknowledgments

We would like to thank the following associates for their assistance with this study: Norio Shinozuka, MD, Akinori Taguchi, MD, Hidenori Haruna MD, and Kaoru Obinata, MD. This study was supported by the NNPL Growth Hormone Award 2010 and a grant-in-aid for Scientific Research from the Ministry of Health, Labour and Welfare of Japan, H26-Nanchitou (Nan)-Ippan-055.

Compliance with ethical standards

Conflict of interest

None

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Tomoko Saito
    • 1
  • Keisuke Nagasaki
    • 1
    Email author
  • Gen Nishimura
    • 2
  • Masaki Wada
    • 1
  • Hiromi Nyuzuki
    • 1
  • Masaki Takagi
    • 3
    • 4
  • Tomonobu Hasegawa
    • 4
  • Naoko Amano
    • 4
  • Jun Murotsuki
    • 5
  • Hideaki Sawai
    • 6
  • Takahiro Yamada
    • 7
  • Shuhei Sato
    • 8
  • Akihiko Saitoh
    • 1
  1. 1.Division of Pediatrics, Department of Homeostatic Regulation and DevelopmentNiigata University Graduate School of Medical and Dental SciencesNiigata Japan
  2. 2.Department of RadiologyTokyo Metropolitan Children’s Medical CenterTokyoJapan
  3. 3.Department of EndocrinologyTokyo Metropolitan Children’s Medical CenterTokyoJapan
  4. 4.Department of PediatricsKeio University School of MedicineTokyoJapan
  5. 5.Department of Maternal and Fetal MedicineTohoku University Graduate School of Medicine, Miyagi Children’s HospitalSendaiJapan
  6. 6.Departments of Obstetrics and GynecologyHyogo College of MedicineHyogoJapan
  7. 7.Departments of Obstetrics and GynecologyHokkaido University HospitalHokkaidoJapan
  8. 8.Department of Obstetrics and GynecologyAomori Rosai HospitalAomoriJapan

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