Skip to main content

Advertisement

SpringerLink
Log in

Criteria for radiologic diagnosis of hypochondroplasia in neonates

  • Original Article
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Hicks J (2003) Achondroplasia family of skeletal dysplasia. In: The National Organization for Rare Disorders. Inc., editors. NORD guide to rare disorders. Lippincott Williams & Wilkins, Philadelphia, p 144

  2. Hall BD, Spranger J (1979) Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology 133:95–100

    Article  CAS  PubMed  Google Scholar 

  3. Matsui Y, Yasui N, Kimura T et al (1998) Genotype phenotype correlation in achondroplasia and hypochondroplasia. J Bone Joint Surg (Br) 80:1052–1056

    Article  CAS  Google Scholar 

  4. Appan S, Laurent S, Chapman M et al (1990) Growth and growth hormone therapy in hypochondroplasia. Acta Paediatr Scand 79:796–803

    Article  CAS  PubMed  Google Scholar 

  5. Saito T, Nagasaki K, Nishimura G et al (2012) Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A 158A:630–634

    Article  PubMed  Google Scholar 

  6. Bonnefoy O, Delbosc JM, Maugey-Laulom B et al (2006) Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. Fetal Diagn Ther 21:18–217

    Article  CAS  PubMed  Google Scholar 

  7. Huggins MJ, Mernagh JR, Steele L et al (1999) Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Am J Med Genet 87:226–229

    Article  CAS  PubMed  Google Scholar 

  8. Jones SM, Robinson LK, Sperrazza R (1990) Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Am J Med Genet 36:404–407

    Article  CAS  PubMed  Google Scholar 

  9. Karadimas C, Sifakis S, Valsamopoulos P et al (2006) Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A 140:998–1003

    Article  CAS  PubMed  Google Scholar 

  10. Kataoka S, Sawai H, Yamada H et al (2004) Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. Prenat Diagn 24:45–49

    Article  PubMed  Google Scholar 

  11. Lemyre E, Azouz EM, Teebi AS et al (1999) Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J 50:185–197

    CAS  PubMed  Google Scholar 

  12. Xue Y, Sun A, Mekikian PB (2014) FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med 2:497–503

  13. Le Merrer M, Maroteaux P (1991) Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. Eur J Pediatr 150:847–851

    Article  PubMed  Google Scholar 

Download references

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.

Author information

Authors and Affiliations

  1. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan

    Tomoko Saito, Keisuke Nagasaki, Masaki Wada, Hiromi Nyuzuki & Akihiko Saitoh

  2. Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Gen Nishimura

  3. Department of Endocrinology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Masaki Takagi

  4. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

    Masaki Takagi, Tomonobu Hasegawa & Naoko Amano

  5. Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children’s Hospital, Sendai, Japan

    Jun Murotsuki

  6. Departments of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan

    Hideaki Sawai

  7. Departments of Obstetrics and Gynecology, Hokkaido University Hospital, Hokkaido, Japan

    Takahiro Yamada

  8. Department of Obstetrics and Gynecology, Aomori Rosai Hospital, Aomori, Japan

    Shuhei Sato

Authors
  1. Tomoko Saito
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Keisuke Nagasaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gen Nishimura
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Masaki Wada
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hiromi Nyuzuki
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Masaki Takagi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Tomonobu Hasegawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Naoko Amano
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Jun Murotsuki
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Hideaki Sawai
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Takahiro Yamada
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Shuhei Sato
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Akihiko Saitoh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Keisuke Nagasaki.

Ethics declarations

Conflict of interest

None

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Saito, T., Nagasaki, K., Nishimura, G. et al. Criteria for radiologic diagnosis of hypochondroplasia in neonates. Pediatr Radiol 46, 513–518 (2016). https://doi.org/10.1007/s00247-015-3518-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-015-3518-2

Keywords

Search

Navigation