Skip to main content
SpringerLink
Log in

Autosomal dominant brachyolmia: transient metaphyseal striations

  • Case Report
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

Abstract

We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brachyolmia. The pelvis/hip radiograph of a 13-year-old boy demonstrated bilaterally symmetrical proximal femoral metaphyseal vertical striations. Additional vertical striations were also observed at the distal femur and proximal tibia metaphysis. Radiography of the thoracolumbar spine demonstrated platyspondyly with irregular endplates and overfaced pedicles. TRPV4 mutations were confirmed in this patient. Similar proximal femoral metaphyseal vertical striations were noted in the patient’s sibling. Those streaks disappeared on the follow-up radiographs, and we considered it a unique radiologic finding transiently observed in autosomal dominant brachyolmia.

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

Similar content being viewed by others

References

  1. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J med Genet Part a. 2014;164:1635–41. doi:10.1002/ajmg.a.36502.

    Article  CAS  Google Scholar 

  2. Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Autosomal recessive brachyolmia: early radiological findings. Skelet Radiol. 2016;45(11):1557–60. doi:10.1007/s00256-016-2458-8.

    Article  Google Scholar 

  3. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012;42:15–23. doi:10.1007/s00247-011-2229-6.

    Article  PubMed  Google Scholar 

  4. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999–1003. doi:10.1038/ng.166.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Shohat M, Lachman R, Gruber HE, Rimoin DL. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J med. 1989;33:209–19.

    CAS  Google Scholar 

  6. Dai J, Kim O-H, Cho T-J, Schmidt-Rimpler M, Tonoki H, Takikawa K, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J med Genet. 2010;47:704–9. doi:10.1136/jmg.2009.075358.

    Article  CAS  PubMed  Google Scholar 

  7. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, et al. TRPV4-associated skeletal dysplasias. Am J med Genet Part C Semin med Genet. 2012;160 C(3):190–204. doi:10.1002/ajmg.c.31335.

    Article  Google Scholar 

  8. Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J med Genet Part a. 2010;152A(6):1443–9. doi:10.1002/ajmg.a.33414.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Inje University Haeundae Paik Hospital, 875, Haeun-daero, Haeundae-gu, Busan, 48108, South Korea

    Yun-Jung Lim

  2. Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 03080, South Korea

    Hye-Ran Lee & Tae-Joon Cho

  3. Department of Radiology, Woorisoa Children’s Hospital, 15, Saemal-ro, Guro-gu, Seoul, 08291, South Korea

    Ok-Hwa Kim

  4. Department of Orthopaedic Surgery, Yonsei University College of Medicine, Severance Children’s Hospital, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea

    Kun-Bo Park

Authors
  1. Yun-Jung Lim
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hye-Ran Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ok-Hwa Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Tae-Joon Cho
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Kun-Bo Park
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kun-Bo Park.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lim, YJ., Lee, HR., Kim, OH. et al. Autosomal dominant brachyolmia: transient metaphyseal striations. Skeletal Radiol 46, 1297–1300 (2017). https://doi.org/10.1007/s00256-017-2684-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00256-017-2684-8

Keywords

Search

Navigation